ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829991057
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288746
ClinVar RCV Id:
RCV000726214
RCV001081525
RCV003930156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.2:p.Gly350Ser
CA2405359
NM_021971.4:c.1048G>A