ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139755044
Gene: CTC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948800
ClinVar RCV Id:
RCV001220129
RCV002562498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079375.3:p.Pro725Arg
CA8372145
NM_025099.6:c.2174C>G