Allele Registry

Canonical Allele Identifier: PA2828535680

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000216907

RCV001510055

RCV001789234

RCV001789235

RCV001789236

ClinVar Variation:

227021

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Gln197Arg	CA5293383 NM_001374689.1:c.590A>G