Canonical Allele Identifier: PA2825445723
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2443410
ClinVar RCV Id: RCV003152017

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070833.1:p.Gly458Arg
CA200795122
NM_001077365.2:c.1372G>C
CA375311714
NM_001077365.2:c.1372G>A