ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195217
Gene: CC2D2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065836.2:p.Thr117Ala
CA2863308
NM_020785.2:c.349A>G