ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825794230
Gene: GLB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129074.2:p.Tyr216Cys
CA351999254
NM_001135602.3:c.647A>G