ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825465587
Gene: CCDC88C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3139598
ClinVar RCV Id:
RCV004430422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Arg319Leu
CA390611862
NM_001080414.4:c.956G>T