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: PA285023

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68570

ClinVar RCV Id: RCV000059445 RCV000188999 RCV001240035 RCV002468563 RCV001849308 RCV002490666

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Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_008851.3:p.Ala1772Thr