Allele Registry

Canonical Allele Identifier: PA2828536255

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000003399

RCV000179928

RCV001264826

RCV001385876

RCV001813942

RCV003234890

RCV003472966

ClinVar Variation:

3243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Ala200Pro	CA203493 NM_001374690.1:c.598G>C