ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061613
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451704
ClinVar RCV Id:
RCV000522572
RCV000529420
RCV000624021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.2:p.Arg311Cys
CA2405407
NM_021971.4:c.931C>T