Canonical Allele Identifier: PA2827714967
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2420513
ClinVar RCV Id: RCV003121678

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340125.1:p.Arg583Leu
CA375314148
NM_001353196.2:c.1748G>T