Allele Registry

Canonical Allele Identifier: PA2828795530

Gene: LARGE1 HGNC NCBI

ClinVar RCV:

RCV000171355

RCV000504467

RCV002513788

ClinVar Variation:

72928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365559.1:p.Glu397Lys	CA236173 NM_001378630.1:c.1189G>A