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: PA329973

Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67798

ClinVar RCV Id: RCV000058572

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000326.2:p.Ser115Gly	CA017168 NM_000335.5:c.343A>G