Allele Registry

Canonical Allele Identifier: PA2827715953

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340127.2:p.Glu373Val	CA222991 NM_001353198.2:c.1118_1119delinsTC CA375309910 NM_001353198.2:c.1118A>T