Canonical Allele Identifier: PA2827713555
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286908
ClinVar RCV Id: RCV000712829 RCV000764805 RCV001041917 RCV003454804 RCV004021212
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.Ser229Arg
CA5293451
NM_001353194.2:c.685A>C
CA375307957
NM_001353194.2:c.687C>A
CA375307958
NM_001353194.2:c.687C>G