Allele Registry

Canonical Allele Identifier: PA288779

Gene: CPS1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

134297

265713

ClinVar RCV:

RCV000116829

RCV000321490

RCV000364698

RCV000509533

RCV000589181

RCV002490791

RCV002494816

RCV003243036

ClinVar Variation:

128849

281476

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001866.2:p.Thr344Ala	CA288777 NM_001875.5:c.1030A>G CA10603892 NM_001875.5:c.1030_1032delinsGCT