Allele Registry

Canonical Allele Identifier: PA340954

Gene: UBA1 HGNC NCBI

ClinVar RCV:

RCV000010435

ClinVar Variation:

9781

HGVS (amino-acid)	Matching Registered Transcripts
NP_695012.1:p.Ser547Gly	CA340953 NM_153280.3:c.1639A>G