ClinGen Allele Registry
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Canonical Allele Identifier:
PA645424609
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241242
ClinVar RCV Id:
RCV000230462
ClinVar Variation Id:
2461869
ClinVar RCV Id:
RCV003196409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060420.2:p.Gly164Arg
CA8813452
NM_017950.4:c.490G>C
CA8813453
NM_017950.4:c.490G>A