Canonical Allele Identifier: PA2828473925
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 562197
ClinVar RCV Id: RCV000681634
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Ile237Leu
CA349017770
NM_001371247.1:c.709A>C
CA658823306
NM_001371247.1:c.709_711delinsTTG