ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744867
Gene: CC2D2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365544.1:p.Ala188Val
CA2863443
NM_001378615.1:c.563C>T