ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645407779
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282579
ClinVar RCV Id:
RCV000509344
RCV001265283
RCV002317801
RCV003224250
RCV003985312
RCV001034485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Arg1918Cys
CA1940421
NM_021007.3:c.5752C>T