Canonical Allele Identifier: PA2741963745
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2683715
ClinVar RCV Id: RCV003480535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Asp416Glu
CA340176678
NM_017739.4:c.1248T>A
CA340176681
NM_017739.4:c.1248T>G