Canonical Allele Identifier: PA2828476360
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 279927
ClinVar RCV Id: RCV000313784 RCV001265413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Gly1593Arg
CA501168
NM_001371247.1:c.4777G>A
CA349036819
NM_001371247.1:c.4777G>C