Allele Registry

Canonical Allele Identifier: PA2828535628

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000540929

RCV000712827

RCV002519193

RCV004543069

ClinVar Variation:

285812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Ala142Thr	CA5293329 NM_001374689.1:c.424G>A