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: PA2573314008

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 1484935

ClinVar RCV Id: RCV002479666 RCV003170381 RCV003657589 RCV004011060

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_932173.1:p.Val1202Met	CA72923192 NM_198056.3:c.3604G>A