Canonical Allele Identifier: PA2573093137
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281057
ClinVar RCV Id: RCV000267239 RCV000268124 RCV000354770 RCV000548277 RCV001084521 RCV001333958 RCV001833303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Val504Ile
CA833347
NM_017739.4:c.1510G>A