Allele Registry

Canonical Allele Identifier: PA2825446520

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081495

RCV000764803

RCV001328597

RCV001341723

RCV004542790

ClinVar Variation:

95469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070834.1:p.Pro197Leu	CA223005 NM_001077366.2:c.590C>T