Canonical Allele Identifier: PA2828073152
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 341437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349880.1:p.Arg60Trp
CA10203135
NM_001362951.2:c.178C>T