Canonical Allele Identifier: PA2825817059
Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283065
ClinVar RCV Id: RCV000325563 RCV000800012 RCV003278734
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001129586.1:p.Arg482Gln
CA5293827
NM_001136114.2:c.1445G>A