ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499246924
Gene: CTPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288166.1:p.Pro40Ser
CA339903143
NM_001301237.2:c.118C>T