ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318047
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207028
ClinVar RCV Id:
RCV000189180
RCV001200926
RCV001374453
RCV001281369
RCV001387542
RCV002319457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066287.2:p.Arg1882Gly
CA318045
NM_021007.3:c.5644C>G