Canonical Allele Identifier: PA916047580
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281331
ClinVar RCV Id: RCV000275942 RCV000396067
ClinVar Variation Id: 281475
ClinVar RCV Id: RCV000271134
ClinVar Variation Id: 1024215
ClinVar RCV Id: RCV001324372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356185.1:p.Thr355Ser
CA2086224
NM_001369256.1:c.1063A>T
CA10603891
NM_001369256.1:c.1063_1065delinsTCT
CA350430574
NM_001369256.1:c.1064C>G