Canonical Allele Identifier: PA2828538435
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 597449
ClinVar RCV Id: RCV000733573

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Leu331Phe
CA5293684
NM_001374695.1:c.991C>T