Allele Registry

Canonical Allele Identifier: PA2828536487

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV001057103

ClinVar Variation:

852488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Ser466Leu	CA5293763 NM_001374690.1:c.1397C>T