Canonical Allele Identifier: PA2825815731
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476557
ClinVar RCV Id: RCV001998158

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ala495Glu
CA375312154
NM_001136113.2:c.1484C>A