Canonical Allele Identifier: PA2827716564
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289144
ClinVar RCV Id: RCV000279795 RCV000726285 RCV001850443
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Thr389Met
CA5293698
NM_001353199.2:c.1166C>T