Allele Registry

Canonical Allele Identifier: PA916047598

Gene: CPS1 HGNC NCBI

ClinVar Allele:

17458

ClinVar RCV:

RCV000002520

RCV003466784

ClinVar Variation:

2419

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Thr555Met	CA115525 NM_001369256.1:c.1664C>T