Canonical Allele Identifier: PA2825817243
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802520
ClinVar RCV Id: RCV000988265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Leu592Pro
CA5293942
NM_001136114.2:c.1775T>C