ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829737101
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_037466.3:p.Arg287Gln
CA090892
NM_013334.4:c.860G>A