ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130803
Gene: CTC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000033248
RCV000475703
RCV000503047
RCV001797048
ClinVar Variation:
40250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079375.3:p.Cys985del
CA130802
NM_025099.6:c.2954_2956del