Allele Registry

Canonical Allele Identifier: PA645487335

Gene: UMPS HGNC NCBI

ClinVar RCV:

RCV000271631

RCV000489675

RCV000814195

ClinVar Variation:

342930

HGVS (amino-acid)	Matching Registered Transcripts
NP_000364.1:p.Ile286Asn	CA2581718 NM_000373.3:c.857T>A