Canonical Allele Identifier: PA2827716538
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.Ser362Arg
CA375311694
NM_001353199.2:c.1084A>C
CA375311709
NM_001353199.2:c.1086C>A
CA375311712
NM_001353199.2:c.1086C>G