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: PA108612

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68657

ClinVar RCV Id: RCV000059537

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Tyr1781Cys	CA285228 NM_001165963.4:c.5342A>G