Allele Registry

Canonical Allele Identifier: PA172467

Gene: LARGE1 HGNC NCBI

ClinVar Allele:

169759

ClinVar RCV:

RCV000146258

RCV000379599

RCV000555307

RCV000710160

RCV000765632

ClinVar Variation:

158807

HGVS (amino-acid)	Matching Registered Transcripts
NP_004728.1:p.Glu71Lys	CA172466 NM_004737.7:c.211G>A