ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212936
Gene: BPGM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000012872
RCV003556005
ClinVar Variation:
12091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001715.1:p.Arg90Cys
CA212935
NM_001724.5:c.268C>T