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: PA2827786563

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68641

ClinVar RCV Id: RCV000059520 RCV003233101 RCV003588572

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg1620Cys	CA285189 NM_001353958.2:c.4858C>T