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: PA2827782509

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 381569

ClinVar RCV Id: RCV000428224 RCV000794021

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ser912Phe	CA16604035 NM_001353957.2:c.2735C>T