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: PA2827789862

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 842847

ClinVar RCV Id: RCV001045336

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Phe1786Leu	CA349067524 NM_001353960.2:c.5358T>G CA349067526 NM_001353960.2:c.5358T>A CA349067536 NM_001353960.2:c.5356T>C