Canonical Allele Identifier: PA2826775760
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56575
ClinVar RCV Id: RCV000049988 RCV000250383 RCV001045717
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277058.2:p.Arg243His
CA263935
NM_001290129.2:c.728G>A