Canonical Allele Identifier: PA2827716790
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127493
ClinVar RCV Id: RCV003047817

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Leu626Trp
CA375315484
NM_001353199.2:c.1877T>G