ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499286911
Gene: CCDC180
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1268803
ClinVar RCV Id:
RCV001679908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065944.3:p.Ser812Cys
CA5145576
NM_020893.6:c.2435C>G