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: PA093374

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2571619

ClinVar RCV Id: RCV003313329

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Phe1473Ser	CA400616065 NM_000334.4:c.4418T>C