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: PA2827781211

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1210876

ClinVar RCV Id: RCV001581598 RCV003771766

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Lys1995Glu	CA59797669 NM_001353955.2:c.5983A>G