Canonical Allele Identifier: PA2828315184
Gene: CPS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356186.1:p.Thr344Ala
CA288777
NM_001369257.1:c.1030A>G
CA10603892
NM_001369257.1:c.1030_1032delinsGCT