Canonical Allele Identifier: PA2573093119
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3992
ClinVar RCV Id: RCV000150001 RCV000984302 RCV000984303 RCV000984210 RCV000984301 RCV001219572 RCV002222337 RCV001847573 RCV002512738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Arg442Cys
CA116547
NM_017739.4:c.1324C>T