ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061608
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225925
ClinVar RCV Id:
RCV000211126
RCV000609930
RCV000698947
RCV001508147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.2:p.Arg287Trp
CA2405424
NM_021971.4:c.859C>T