Canonical Allele Identifier: PA2825815693
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471376
ClinVar RCV Id: RCV003767049

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Ser483Asn
CA5293697
NM_001136113.2:c.1448G>A