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: PA2573205771

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1519829

ClinVar RCV Id: RCV002043796

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Asn933Lys	CA349068416 NM_001353961.2:c.2799C>A CA349068418 NM_001353961.2:c.2799C>G