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: PA2827786824

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 930321

ClinVar RCV Id: RCV001195896 RCV001863098

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Tyr1753His	CA349068092 NM_001353958.2:c.5257T>C