Canonical Allele Identifier: PA2827714486
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2287454
ClinVar RCV Id: RCV002831769

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340124.1:p.Ile605Val
CA375315492
NM_001353195.2:c.1813A>G