Canonical Allele Identifier: PA2829737020
Gene: GMPPB HGNC NCBI

Linked Data

ClinVar Variation Id: 60543
ClinVar RCV Id: RCV000054436 RCV000054437 RCV000200261 RCV000503216 RCV000623944 RCV001781385
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037466.3:p.Arg185Cys
CA144560
NM_013334.4:c.553C>T