Allele Registry

Canonical Allele Identifier: PA2827716915

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081475

ClinVar Variation:

95450

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Tyr174Cys	CA222987 NM_001353200.2:c.521A>G