Canonical Allele Identifier: PA2826776503
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 933353
ClinVar RCV Id: RCV001201550

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277059.2:p.Phe358Leu
CA340173349
NM_001290130.2:c.1074T>G
CA340173357
NM_001290130.2:c.1074T>A
CA340173388
NM_001290130.2:c.1072T>C