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: PA2580108826

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2336188

ClinVar RCV Id: RCV002930815

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Val1422Gly	CA400616354 NM_000334.4:c.4265T>G