ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580149111
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2173139
ClinVar RCV Id:
RCV002574527
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Val827Ala
CA7309638
NM_001080414.4:c.2480T>C