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: PA2827783971

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1685088

ClinVar RCV Id: RCV002248180

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Pro1816Leu	CA349065582 NM_001353957.2:c.5447C>T