ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825444546
Gene: GLB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073279.2:p.Ser119Phe
CA2299701
NM_001079811.3:c.356C>T