Canonical Allele Identifier: PA2828476265
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 828183
ClinVar RCV Id: RCV001028090

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Met1548Ile
CA349036355
NM_001371247.1:c.4644G>A
CA349036356
NM_001371247.1:c.4644G>C
CA349036357
NM_001371247.1:c.4644G>T