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: PA2827762133

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206732

ClinVar RCV Id: RCV001200251 RCV001318625

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Ile1944Met	CA317108 NM_001353949.2:c.5832A>G