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: PA2827755969

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68615

ClinVar RCV Id: RCV000059492 RCV000433130 RCV001854244

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Thr112Ile	CA285126 NM_001353949.2:c.335C>T