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: PA2827783172

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190014

ClinVar RCV Id: RCV000180970

ClinVar Variation Id: 2734302

ClinVar RCV Id: RCV003588457

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Val1362Leu	CA303554 NM_001353957.2:c.4084G>C CA349050206 NM_001353957.2:c.4084G>T