ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741830636
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2891766
ClinVar RCV Id:
RCV003725109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Ala749Val
CA7309708
NM_001080414.4:c.2246C>T