ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826326989
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000244307
RCV000399959
RCV001094519
RCV001283738
RCV001544955
ClinVar Variation:
260979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230271.1:p.Asp284His
CA8813582
NM_001243342.2:c.850G>C