Allele Registry

Canonical Allele Identifier: PA916035719

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000216907

RCV001510055

RCV001789234

RCV001789235

RCV001789236

ClinVar Variation:

227021

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Gln251Arg	CA5293383 NM_001353193.2:c.752A>G