Canonical Allele Identifier: PA2825584008
Gene: CPS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116105.2:p.Thr344Ala
CA288777
NM_001122633.3:c.1030A>G
CA10603892
NM_001122633.3:c.1030_1032delinsGCT