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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:
CA343675557
Gene: LAMC1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.183096537A>T (hg19)
chr1:g.183127402A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183127402A>T , CM000663.2:g.183127402A>T
GRCh38
NC_000001.10:g.183096537A>T , CM000663.1:g.183096537A>T
GRCh37
NC_000001.9:g.181363160A>T
NCBI36
NG_011463.1:g.108943A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000258341.5:c.3121A>T
MANE Select
ENSP00000258341.3:p.Lys1041Ter
ENST00000258341.4:c.3121A>T
ENSP00000258341.3:p.Lys1041Ter
ENST00000466964.1:n.683A>T
NM_002293.3:c.3121A>T
NP_002284.3:p.Lys1041Ter
NM_002293.4:c.3121A>T
MANE Select
NP_002284.3:p.Lys1041Ter
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