ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828787329
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288560
ClinVar RCV Id:
RCV000321273
RCV000765759
RCV001087972
RCV004543116
RCV002518042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365546.1:p.Arg933His
CA2864042
NM_001378617.1:c.2798G>A