ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828787084
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287246
ClinVar RCV Id:
RCV000402581
RCV001202071
RCV001334751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365546.1:p.Arg779Gln
CA2863930
NM_001378617.1:c.2336G>A