Canonical Allele Identifier: PA2827716558
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856405
ClinVar RCV Id: RCV001061860 RCV003132198 RCV002553908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Tyr385Cys
CA5293694
NM_001353199.2:c.1154A>G