Canonical Allele Identifier: PA2825815653
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471375
ClinVar RCV Id: RCV000558807 RCV003459248
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129585.1:p.Trp464Ser
CA5293687
NM_001136113.2:c.1391G>C