Canonical Allele Identifier: PA2827715659
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127493
ClinVar RCV Id: RCV003047817

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.2:p.Leu689Trp
CA375315484
NM_001353197.2:c.2066T>G