Allele Registry

Canonical Allele Identifier: PA110376

Gene: UBA1 HGNC NCBI

ClinVar RCV:

RCV000010434

RCV002003755

ClinVar Variation:

9780

1486648

HGVS (amino-acid)	Matching Registered Transcripts
NP_003325.2:p.Met539Ile	CA340951 NM_003334.4:c.1617G>T CA412801274 NM_003334.4:c.1617G>A CA412801279 NM_003334.4:c.1617G>C