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: PA2827764856

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372566

ClinVar RCV Id: RCV000413258 RCV000696398 RCV002248644

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Arg854Gln	CA16042360 NM_001353950.2:c.2561G>A