Canonical Allele Identifier: PA2825447126
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260143
ClinVar RCV Id: RCV000246533 RCV000332912 RCV000687622 RCV000725940 RCV002518638
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070834.1:p.Val522Ala
CA5293806
NM_001077366.2:c.1565T>C