ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075233
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000726483
RCV001087966
RCV001145225
RCV001145226
RCV004537612
ClinVar Variation:
290432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365544.1:p.Arg706Gln
CA2863850
NM_001378615.1:c.2117G>A