ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826326930
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230462
RCV003196409
ClinVar Variation:
241242
2461869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230271.1:p.Gly164Arg
CA8813452
NM_001243342.2:c.490G>C
CA8813453
NM_001243342.2:c.490G>A