Allele Registry

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.

Canonical Allele Identifier: PA2825131215

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 570277

ClinVar RCV Id: RCV002369859 RCV001841858 RCV002261176

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_000326.2:p.Phe1316Cys