Allele Registry

Canonical Allele Identifier: PA916067998

Gene: LARGE1 HGNC NCBI

ClinVar RCV:

RCV000171355

RCV000504467

RCV002513788

ClinVar Variation:

72928

HGVS (amino-acid)	Matching Registered Transcripts
NP_598397.1:p.Glu598Lys	CA236173 NM_133642.5:c.1792G>A