Canonical Allele Identifier: PA288780
Gene: CPS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001116105.1:p.Thr350Ala
CA288777
NM_001122633.2:c.1048A>G
CA10603892
NM_001122633.2:c.1048_1050delinsGCT