ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580149138
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1710208
ClinVar RCV Id:
RCV002291135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Asn1108del
CA2575603294
NM_001080414.4:c.3323_3325del