ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA241007
Gene: CC2D2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073991.2:p.Arg680His
CA241005
NM_001080522.2:c.2039G>A