ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197956
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1974200
ClinVar RCV Id:
RCV002741282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303969.2:p.Ala683Ser
CA352000325
NM_001317040.2:c.2047G>T