Allele Registry

Canonical Allele Identifier: PA2827714979

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000175455

RCV000648152

ClinVar Variation:

194962

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340125.1:p.Pro601Leu	CA278501 NM_001353196.2:c.1802C>T