Canonical Allele Identifier: PA2826776045
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3216726
ClinVar RCV Id: RCV004514589

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277058.2:p.Lys516Arg
CA340171831
NM_001290129.2:c.1547A>G