ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825794695
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194596
ClinVar RCV Id:
RCV000175003
RCV000175004
RCV000703485
RCV003221293
RCV003387787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129074.2:p.Arg459Cys
CA201253
NM_001135602.3:c.1375C>T