Canonical Allele Identifier: PA2827778921
Gene: SCN1A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Gln429Lys
CA349070767
NM_001353955.2:c.1285C>A