Canonical Allele Identifier: PA916067981
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167251

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_598397.1:p.Arg526His
CA234211
NM_133642.5:c.1577G>A