ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075619
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
347761
ClinVar RCV Id:
RCV000270412
RCV000379021
RCV001339478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365544.1:p.Thr649Arg
CA2863797
NM_001378615.1:c.1946C>G