Canonical Allele Identifier: PA2828535633
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416325
ClinVar RCV Id: RCV001947857

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361618.1:p.Val147Met
CA375307252
NM_001374689.1:c.439G>A
CA2573144012
NM_001374689.1:c.438_439delinsGA