Canonical Allele Identifier: PA2825815641
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374758
ClinVar RCV Id: RCV001900686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ser457Arg
CA375311694
NM_001136113.2:c.1369A>C
CA375311709
NM_001136113.2:c.1371C>A
CA375311712
NM_001136113.2:c.1371C>G