Canonical Allele Identifier: PA2826336029
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56580
ClinVar RCV Id: RCV000049993 RCV001542551 RCV002514261 RCV002514262 RCV003228903 RCV003460640
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Gly448Arg
CA263945
NM_001243766.2:c.1342G>C
CA340175387
NM_001243766.2:c.1342G>A