Allele Registry

Canonical Allele Identifier: PA2828794742

Gene: LARGE1 HGNC NCBI

ClinVar RCV:

RCV000171355

RCV000504467

RCV002513788

ClinVar Variation:

72928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365558.1:p.Glu546Lys	CA236173 NM_001378629.1:c.1636G>A