ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828472378
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000422482
ClinVar Variation:
390338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358175.1:p.Cys1386Tyr
CA16603824
NM_001371246.1:c.4157G>A