ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678757
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447019
ClinVar RCV Id:
RCV000765187
RCV000517040
RCV004553118
RCV002525023
RCV003441904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Thr1527Ala
CA7308945
NM_001080414.4:c.4579A>G