Canonical Allele Identifier: PA2828074144
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447859
ClinVar RCV Id: RCV001979979
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349882.1:p.Leu501Val
CA323711559
NM_001362953.2:c.1501C>G