ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829206177
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450616
ClinVar RCV Id:
RCV000522107
RCV000765726
RCV001079383
RCV004537876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001380509.1:p.Arg530Cys
CA2299352
NM_001393580.1:c.1588C>T