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: PA2827780630

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68641

ClinVar RCV Id: RCV000059520 RCV003233101 RCV003588572

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg1636Cys	CA285189 NM_001353955.2:c.4906C>T