Canonical Allele Identifier: PA2828537931
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.Ser340Arg
CA375311694
NM_001374693.1:c.1018A>C
CA375311709
NM_001374693.1:c.1020C>A
CA375311712
NM_001374693.1:c.1020C>G