Canonical Allele Identifier: PA2827762102
Gene: SCN1A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Thr1930Lys
CA349063661
NM_001353949.2:c.5789C>A