Canonical Allele Identifier: PA2826335601
Gene: POMGNT1 HGNC NCBI
ClinVar RCV:
RCV000050020
ClinVar Variation:
56607
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001230695.2:p.Cys269Tyr
CA263987
NM_001243766.2:c.806G>A