ClinGen Allele Registry
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Canonical Allele Identifier:
PA916061579
Gene: CCDC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000886267
RCV001333306
RCV003948372
ClinVar Variation:
714026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114429.2:p.Arg15Trp
CA9528791
NM_032040.5:c.43C>T