Canonical Allele Identifier: PA2827714809
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2443410
ClinVar RCV Id: RCV003152017

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Gly428Arg
CA200795122
NM_001353196.2:c.1282G>C
CA375311714
NM_001353196.2:c.1282G>A