Canonical Allele Identifier: PA2573093089
Gene: POMGNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 254270
ClinVar RCV Id: RCV000240954 RCV001333961 RCV001854940 RCV003479082 RCV003133196
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060209.4:p.Ile287Ser
CA833593
NM_017739.4:c.860T>G