Allele Registry

Canonical Allele Identifier: PA2828537098

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000175455

RCV000648152

ClinVar Variation:

194962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361620.1:p.Pro514Leu	CA278501 NM_001374691.1:c.1541C>T