ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678742
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447015
ClinVar RCV Id:
RCV000517793
RCV000765188
RCV003441903
RCV002527464
RCV004551658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Ala798Val
CA7309671
NM_001080414.4:c.2393C>T