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: PA2827921683

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67635

ClinVar RCV Id: RCV000058392

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341630.1:p.Met369Lys	CA014336 NM_001354701.2:c.1106T>A