ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA208072
Gene: CTC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210794
ClinVar RCV Id:
RCV000194118
RCV000545908
RCV000764154
RCV001508436
RCV002517927
RCV003967495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079375.3:p.Arg731Gln
CA208071
NM_025099.6:c.2192G>A