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: PA2827777953

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68661

ClinVar RCV Id: RCV000059541 RCV000435635

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Phe1796Leu	CA285237 NM_001353954.2:c.5386T>C CA349067651 NM_001353954.2:c.5388C>A CA349067654 NM_001353954.2:c.5388C>G