ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580476143
Gene: CDT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112190.2:p.Ser93Phe
CA8233547
NM_030928.4:c.278C>T