Allele Registry

Canonical Allele Identifier: PA2580229673

Gene: CPS1 HGNC NCBI

ClinVar Allele:

1908255

ClinVar RCV:

RCV002585136

ClinVar Variation:

2174307

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356185.1:p.Arg649Gln	CA2086499 NM_001369256.1:c.1946G>A