ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828795505
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392967
ClinVar RCV Id:
RCV000424373
RCV001147863
RCV001147864
RCV002063654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365544.1:p.Arg127Gln
CA2863395
NM_001378615.1:c.380G>A