ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139754957
Gene: CTC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079375.3:p.Arg589His
CA8372261
NM_025099.6:c.1766G>A