ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829737068
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000211128
RCV000430158
RCV002515608
ClinVar Variation:
225926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037466.3:p.Val254Met
CA10576144
NM_013334.4:c.760G>A