Canonical Allele Identifier: PA2825445749
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1426737
ClinVar RCV Id: RCV001929572 RCV004044330
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070833.1:p.Val472Ile
CA200795161
NM_001077365.2:c.1414G>A