Canonical Allele Identifier: PA2573093069
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471406
ClinVar RCV Id: RCV000554424 RCV000591176 RCV001200051 RCV001834803 RCV002530069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Arg129Gln
CA833755
NM_017739.4:c.386G>A