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: PA2828360868

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 383545

ClinVar RCV Id: RCV000439821 RCV000766191 RCV003992294

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356717.1:p.Gly964Arg	CA16607342 NM_001369788.1:c.2890G>C