Canonical Allele Identifier: PA2826335936
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683715
ClinVar RCV Id: RCV003480535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Asp416Glu
CA340176678
NM_001243766.2:c.1248T>A
CA340176681
NM_001243766.2:c.1248T>G