Canonical Allele Identifier: PA2827714409
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1696906
ClinVar RCV Id: RCV002267252

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Tyr525Cys
CA375314480
NM_001353195.2:c.1574A>G