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: PA1139741041

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 836631

ClinVar RCV Id: RCV001037807

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Lys618Ile	CA349049621 NM_001353961.2:c.1853A>T