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: PA2827768662

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2153323

ClinVar RCV Id: RCV003077551 RCV003455694

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Ile1944Val	CA1942629 NM_001353950.2:c.5830A>G