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: PA2741933309

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2779481

ClinVar RCV Id: RCV003753352

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Thr217Ile	CA349074205 NM_006920.6:c.650C>T