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: PA264899

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67639

ClinVar RCV Id: RCV000058396 RCV000182960 RCV000617435 RCV001842271 RCV002498339 RCV003457639

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001092874.1:p.Arg376His	CA014389 NM_001099404.2:c.1127G>A