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: PA2826130703

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 3067149

ClinVar RCV Id: RCV003992838

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Thr1746Pro	CA384885532 NM_001177984.2:c.5236A>C