Allele Registry

Canonical Allele Identifier: PA2828789628

Gene: LARGE1 HGNC NCBI

ClinVar Allele:

83819

ClinVar RCV:

RCV000171355

RCV000504467

RCV002513788

ClinVar Variation:

72928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365553.1:p.Glu598Lys	CA236173 NM_001378624.1:c.1792G>A