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: PA2827780378

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12893

ClinVar RCV Id: RCV000013753 RCV003992152

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Gln1477Lys	CA256608 NM_001353955.2:c.4429C>A