Allele Registry

Canonical Allele Identifier: PA2828789498

Gene: LARGE1 HGNC NCBI

ClinVar Variation Id: 1447859

ClinVar RCV Id: RCV001979979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365553.1:p.Leu501Val	CA323711559 NM_001378624.1:c.1501C>G