ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826869926
Gene: CTPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288166.1:p.Ser418Thr
CA339906989
NM_001301237.2:c.1253G>C