ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828475309
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2945553
ClinVar RCV Id:
RCV003803647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Tyr1092His
CA349021646
NM_001371247.1:c.3274T>C