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: PA2827752988

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 194932

ClinVar RCV Id: RCV000175413 RCV000544348

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Phe1289Ser	CA241171 NM_001353948.2:c.3866T>C