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: PA2827763741

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 283002

ClinVar RCV Id: RCV000357729 RCV001718573

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Ala420Asp	CA10604364 NM_001353950.2:c.1259C>A