Canonical Allele Identifier: PA916047638
Gene: CPS1 HGNC NCBI
ClinVar Allele:
17463
ClinVar RCV:
RCV000002526
ClinVar Variation:
2424
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356185.1:p.Gly993Asp
CA115537
NM_001369256.1:c.2978G>A