Allele Registry

Canonical Allele Identifier: PA2825815360

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081495

RCV000764803

RCV001328597

RCV001341723

RCV004542790

ClinVar Variation:

95469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129585.1:p.Pro251Leu	CA223005 NM_001136113.2:c.752C>T