ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580149172
Gene: CCDC88C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073883.2:p.Ser1513Leu
CA7308958
NM_001080414.4:c.4538C>T