ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645425319
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
325748
ClinVar RCV Id:
RCV000297156
RCV001094516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Arg1082His
CA8814681
NM_017950.4:c.3245G>A