Allele Registry

Canonical Allele Identifier: PA2825446039

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000175455

RCV000648152

ClinVar Variation:

194962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070833.1:p.Pro631Leu	CA278501 NM_001077365.2:c.1892C>T