ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061592
Gene: CCDC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114429.2:p.Ala349Pro
CA9528555
NM_032040.5:c.1045G>C