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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:
CA1211825233
Gene: LAMC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183243082_183243083delinsCG , CM000663.2:g.183243082_183243083delinsCG
GRCh38
NC_000001.10:g.183212217_183212218delinsCG , CM000663.1:g.183212217_183212218delinsCG
GRCh37
NC_000001.9:g.181478840_181478841delinsCG
NCBI36
NG_007079.2:g.61819_61820delinsCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264144.5:c.3329-65_3329-64delinsCG
MANE Select
ENSP00000264144.4:n.3329-65_3329-64delinsCG
ENST00000264144.4:c.3329-65_3329-64delinsCG
ENSP00000264144.4:n.3329-65_3329-64delinsCG
NM_005562.2:c.3329-65_3329-64delinsCG
NP_005553.2:n.3329-65_3329-64delinsCG
NM_005562.3:c.3329-65_3329-64delinsCG
MANE Select
NP_005553.2:n.3329-65_3329-64delinsCG
Search 100 bp 5'
Search 100 bp 3'