Canonical Allele Identifier: PA2827717017
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395773
ClinVar RCV Id: RCV001887254

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340129.1:p.Phe293Leu
CA375311401
NM_001353200.2:c.877T>C
CA375311412
NM_001353200.2:c.879T>A
CA375311413
NM_001353200.2:c.879T>G