Allele Registry

Canonical Allele Identifier: PA2828072477

Gene: LARGE1 HGNC NCBI

ClinVar RCV:

RCV000146258

RCV000379599

RCV000555307

RCV000710160

RCV000765632

ClinVar Variation:

158807

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349878.1:p.Glu71Lys	CA172466 NM_001362949.2:c.211G>A