Canonical Allele Identifier: PA2825359597
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 813286
ClinVar RCV Id: RCV001004057 RCV001347643
ClinVar Variation Id: 2950788
ClinVar RCV Id: RCV003810098 RCV004366669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035233.1:p.Lys1260Asn
CA349028102
NM_001040143.2:c.3780G>C
CA349028108
NM_001040143.2:c.3780G>T