ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825162559
Gene: GLB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000395.3:p.Tyr347Cys
CA351999254
NM_000404.4:c.1040A>G