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: PA645449205

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 383545

ClinVar RCV Id: RCV000439821 RCV000766191 RCV003992294

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Gly964Arg	CA16607342 NM_014191.4:c.2890G>C