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: PA2827750550

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1098587

ClinVar RCV Id: RCV001420525

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val422Leu	CA349070860 NM_001353948.2:c.1264G>T CA349070861 NM_001353948.2:c.1264G>C