Allele Registry

Canonical Allele Identifier: PA1139723103

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV001057103

ClinVar Variation:

852488

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.4:p.Ser561Leu	CA5293763 NM_007171.4:c.1682C>T