Canonical Allele Identifier: PA2828471742
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2099736
ClinVar RCV Id: RCV003023159
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Gln1004His
CA349019694
NM_001371246.1:c.3012G>C
CA349019695
NM_001371246.1:c.3012G>T