ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828786879
Gene: CC2D2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365546.1:p.Val648Ala
CA2863844
NM_001378617.1:c.1943T>C