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: PA2827776968

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68533

ClinVar RCV Id: RCV000059406 RCV000636387 RCV000188926 RCV001836729

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Arg1233Gln	CA284931 NM_001353954.2:c.3698G>A