Canonical Allele Identifier: PA3066527121
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Thr1249Ser
CA349054390
NM_006920.6:c.3746C>G
CA349054395
NM_006920.6:c.3745A>T