ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828471995
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2118004
ClinVar RCV Id:
RCV003030258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Cys1182Arg
CA349025815
NM_001371246.1:c.3544T>C