ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573090189
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373160
ClinVar RCV Id:
RCV000413124
RCV002058865
RCV003133248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037466.3:p.Tyr340Cys
CA2405383
NM_013334.4:c.1019A>G