Canonical Allele Identifier: PA2828537950
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_001361622.1:p.Tyr363Cys
CA5293694
NM_001374693.1:c.1088A>G