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: PA285164

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68630

ClinVar RCV Id: RCV000059509 RCV000521069 RCV001067468

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Gly1422Glu	CA285162 NM_006920.6:c.4265G>A