ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829991040
Gene: GMPPB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
60547
ClinVar RCV Id:
RCV000054441
RCV000440664
RCV000501778
RCV000623470
RCV000651278
RCV001330455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068806.2:p.Val330Ile
CA144570
NM_021971.4:c.988G>A