Canonical Allele Identifier: PA2827716562
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 972029
ClinVar RCV Id: RCV001247957 RCV002570364
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Gly387Arg
CA5293696
NM_001353199.2:c.1159G>A
CA375312008
NM_001353199.2:c.1159G>C