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: PA2826013957

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68657

ClinVar RCV Id: RCV000059537

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Tyr1753Cys	CA285228 NM_001165964.3:c.5258A>G