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: PA2827754176

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68552

ClinVar RCV Id: RCV000059426 RCV000188974 RCV000636318

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Cys1588Arg	CA284979 NM_001353948.2:c.4762T>C