Allele Registry

Canonical Allele Identifier: PA2828535543

Gene: POMT1 HGNC NCBI

ClinVar Allele:

493624

ClinVar RCV:

RCV000591710

RCV000819538

RCV002532650

RCV003459474

ClinVar Variation:

502200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Pro12Leu	CA5293180 NM_001374689.1:c.35C>T