Canonical Allele Identifier: PA2828470566
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 449164
ClinVar RCV Id: RCV000520182 RCV004017661 RCV001257708
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Ala240Val
CA349017813
NM_001371246.1:c.719C>T