Canonical Allele Identifier: PA645467486
Gene: LARGE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 341437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004728.1:p.Arg60Trp
CA10203135
NM_004737.7:c.178C>T