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: PA2827781518

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68577

ClinVar RCV Id: RCV000059453 RCV002513781

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr217Lys	CA285039 NM_001353957.2:c.650C>A