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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1009904271
Gene: LAMC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1660080060
gnomAD v3:
1-183239957-A-AT
gnomAD v4:
1-183239957-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183239963dup , CM000663.2:g.183239963dup
GRCh38
NC_000001.10:g.183209098dup , CM000663.1:g.183209098dup
GRCh37
NC_000001.9:g.181475721dup
NCBI36
NG_007079.2:g.58700dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264144.5:c.3070-77dup
MANE Select
ENSP00000264144.4:n.3070-77dup
ENST00000264144.4:c.3070-77dup
ENSP00000264144.4:n.3070-77dup
ENST00000461729.1:n.463dup
ENST00000493293.5:c.3070-77dup
ENSP00000432063.1:n.3070-77dup
NM_005562.2:c.3070-77dup
NP_005553.2:n.3070-77dup
NM_018891.2:c.3070-77dup
NP_061486.2:n.3070-77dup
NM_005562.3:c.3070-77dup
MANE Select
NP_005553.2:n.3070-77dup
NM_018891.3:c.3070-77dup
NP_061486.2:n.3070-77dup
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