ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208882
Gene: CC2D2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073991.2:p.Val660Ile
CA208880
NM_001080522.2:c.1978G>A