Allele Registry

Canonical Allele Identifier: PA2828535971

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV002286388

RCV002512704

ClinVar Variation:

3242

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Trp556Cys	CA116106 NM_001374689.1:c.1668G>C CA375313220 NM_001374689.1:c.1668G>T