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: PA2827789281

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12893

ClinVar RCV Id: RCV000013753 RCV003992152

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Gln1460Lys	CA256608 NM_001353960.2:c.4378C>A