ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827318028
Gene: CCDC40
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166808
ClinVar RCV Id:
RCV000218985
RCV000196597
RCV001122016
RCV003422043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317437.1:p.Thr112Ala
CA233639
NM_001330508.2:c.334A>G