Allele Registry

Canonical Allele Identifier: PA2827716089

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV001057103

ClinVar Variation:

852488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340127.2:p.Ser507Leu	CA5293763 NM_001353198.2:c.1520C>T