ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916061594
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260287
ClinVar RCV Id:
RCV000251834
RCV001226319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.2:p.Arg243Gln
CA2405464
NM_021971.4:c.728G>A