Canonical Allele Identifier: PA2827714481
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1998907
ClinVar RCV Id: RCV002815007
ClinVar Variation Id: 2678012
ClinVar RCV Id: RCV003472489

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Trp597Ter
CA1139532753
NM_001353195.2:c.1791del