Canonical Allele Identifier: PA2573093062
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290280
ClinVar RCV Id: RCV000524954 RCV000407599 RCV000763938 RCV001275757 RCV002518127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Arg90His
CA833803
NM_017739.4:c.269G>A