ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827318244
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241231
ClinVar RCV Id:
RCV000228173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317437.1:p.Ala380Thr
CA8813695
NM_001330508.2:c.1138G>A