Allele Registry

Canonical Allele Identifier: PA2573063868

Gene: ALG11 HGNC NCBI

ClinVar RCV:

RCV001757838

RCV002032778

ClinVar Variation:

1303283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001004127.2:p.Glu387Ala	CA6990025 NM_001004127.2:c.1160A>C