ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825444540
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522669
ClinVar RCV Id:
RCV000625810
RCV002295308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073279.2:p.Leu117Phe
CA351994074
NM_001079811.3:c.349C>T