Canonical Allele Identifier: PA2827773437
Gene: SCN1A HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Arg851Gly
CA281752
NM_001353952.2:c.2551C>G