ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718205
Gene: CTPS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001896.2:p.Asp264Tyr
CA339904293
NM_001905.4:c.790G>T