ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075616
Gene: CC2D2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000726978
RCV000765762
RCV001081324
RCV004535520
ClinVar Variation:
421683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365544.1:p.Val1290Ala
CA2864250
NM_001378615.1:c.3869T>C