Canonical Allele Identifier: PA2827716233
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 655812
ClinVar RCV Id: RCV000812068

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.Asp669Tyr
CA5293939
NM_001353198.2:c.2005G>T