ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658678760
Gene: CCDC88C
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001073883.2:p.Leu1696Pro
NM_001080414.4:c.5087T>C