Canonical Allele Identifier: PA658806569
Gene: POMT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497671
ClinVar RCV Id: RCV000648181 RCV000712837 RCV002476283 RCV004024714
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037514.2:p.Asp77Asn
CA7286258
NM_013382.7:c.229G>A