Canonical Allele Identifier: PA2573067781
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 297532
ClinVar RCV Id: RCV000296026 RCV000350895 RCV002244746
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Ala716Val
CA833137
NM_001243766.2:c.2147C>T