Allele Registry

Canonical Allele Identifier: PA2829694577

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000216907

RCV001510055

RCV001789234

RCV001789235

RCV001789236

ClinVar Variation:

227021

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.4:p.Gln251Arg	CA5293383 NM_007171.4:c.752A>G