Canonical Allele Identifier: PA916047581
Gene: CPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128849
ClinVar RCV Id: RCV000116829 RCV000364698 RCV000589181 RCV002490791
ClinVar Variation Id: 281476
ClinVar RCV Id: RCV000321490 RCV000509533 RCV002494816 RCV003243036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356185.1:p.Thr355Ala
CA288777
NM_001369256.1:c.1063A>G
CA10603892
NM_001369256.1:c.1063_1065delinsGCT