Canonical Allele Identifier: PA2573069547
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373719
ClinVar RCV Id: RCV000413042 RCV000873590 RCV001096118 RCV001096117 RCV004544726
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001277059.2:p.Ser90Phe
CA833641
NM_001290130.2:c.269C>T