Canonical Allele Identifier: PA2825817085
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420513
ClinVar RCV Id: RCV003121678

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Arg496Leu
CA375314148
NM_001136114.2:c.1487G>T