Canonical Allele Identifier: PA2829675736
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3067157
ClinVar RCV Id: RCV003992846

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Met1256Ile
CA349054289
NM_006920.6:c.3768G>T
CA349054291
NM_006920.6:c.3768G>C
CA349054293
NM_006920.6:c.3768G>A