Canonical Allele Identifier: PA2825815729
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288440
ClinVar RCV Id: RCV000381543

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ala495Thr
CA5293710
NM_001136113.2:c.1483G>A