Canonical Allele Identifier: PA2828538613
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3250
ClinVar RCV Id: RCV000414180 RCV000694423 RCV002286394 RCV003460409
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361624.1:p.Ala517Thr
CA116114
NM_001374695.1:c.1549G>A