Canonical Allele Identifier: PA2829358255
Gene: CTPS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001896.2:p.Gly190Arg
CA339903050
NM_001905.4:c.568G>A
CA339903051
NM_001905.4:c.568G>C