Canonical Allele Identifier: PA916061607
Gene: GMPPB HGNC NCBI

Linked Data

ClinVar Variation Id: 60545
ClinVar RCV Id: RCV000054439 RCV000209893 RCV000553832 RCV000520160 RCV001266808 RCV001542745 RCV003407434 RCV001814035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068806.2:p.Arg287Gln
CA090892
NM_021971.4:c.860G>A