Allele Registry

Canonical Allele Identifier: PA2828536479

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000695707

RCV000712813

RCV002470918

RCV002491186

ClinVar Variation:

498220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Ala460Val	CA5293760 NM_001374690.1:c.1379C>T