Canonical Allele Identifier: PA2827716019
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2114941
ClinVar RCV Id: RCV003043037

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340127.2:p.His449Asn
CA375311995
NM_001353198.2:c.1345C>A