Canonical Allele Identifier: PA2827713304
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3250
ClinVar RCV Id: RCV000414180 RCV000694423 RCV002286394 RCV003460409
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340122.2:p.Ala669Thr
CA116114
NM_001353193.2:c.2005G>A