Canonical Allele Identifier: PA2829876121
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3997
ClinVar RCV Id: RCV000004204 RCV000081801 RCV000671438 RCV000710195 RCV001082774 RCV001097781 RCV001449938 RCV001579238 RCV001579237
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Asp556Asn
CA116557
NM_017739.4:c.1666G>A