Canonical Allele Identifier: PA2827713153
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497644
ClinVar RCV Id: RCV000594350 RCV001867925
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Val510Met
CA5293703
NM_001353193.2:c.1528G>A