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: PA2827774293

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2015187

ClinVar RCV Id: RCV002839333

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Phe1420Leu	CA349049627 NM_001353952.2:c.4260C>A CA349049628 NM_001353952.2:c.4260C>G CA349049633 NM_001353952.2:c.4258T>C