Allele Registry

Canonical Allele Identifier: PA2828536419

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000032630

ClinVar Variation:

39435

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Thr392Met	CA211172 NM_001374690.1:c.1175C>T