Canonical Allele Identifier: PA175111
Gene: CPS1 HGNC NCBI
ClinVar Allele:
172198
ClinVar RCV:
RCV000149915
ClinVar Variation:
162525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001866.2:p.Val1013del
CA175109
NM_001875.5:c.3037_3039del