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: PA2827753946

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1466998

ClinVar RCV Id: RCV001990657

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Pro1519Ala	CA349048588 NM_001353948.2:c.4555C>G