Canonical Allele Identifier: PA2828315182
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_001356186.1:p.Thr344Ser
CA2086224
NM_001369257.1:c.1030A>T
CA10603891
NM_001369257.1:c.1030_1032delinsTCT
CA350430574
NM_001369257.1:c.1031C>G