ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828475121
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
206978
ClinVar RCV Id:
RCV000189127
RCV000417104
RCV000195526
RCV002433854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Ser987Ile
CA209995
NM_001371247.1:c.2960G>T