Allele Registry

Canonical Allele Identifier: PA2827717202

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000175455

RCV000648152

ClinVar Variation:

194962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Pro479Leu	CA278501 NM_001353200.2:c.1436C>T