Canonical Allele Identifier: PA2828536419
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39435
ClinVar RCV Id: RCV000032630
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361619.1:p.Thr392Met
CA211172
NM_001374690.1:c.1175C>T