ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828476478
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2575847
ClinVar RCV Id:
RCV003321413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Gly1642Ala
CA349037801
NM_001371247.1:c.4925G>C