Canonical Allele Identifier: PA2826336175
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933353
ClinVar RCV Id: RCV001201550

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Phe501Leu
CA340173349
NM_001243766.2:c.1503T>G
CA340173357
NM_001243766.2:c.1503T>A
CA340173388
NM_001243766.2:c.1501T>C