Canonical Allele Identifier: PA2826775704
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56603
ClinVar RCV Id: RCV000050016 RCV001528958
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277058.2:p.Trp188Cys
CA263978
NM_001290129.2:c.564G>T
CA340186594
NM_001290129.2:c.564G>C