ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825794704
Gene: GLB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550288
ClinVar RCV Id:
RCV000664993
RCV000987138
RCV001797774
RCV001868198
RCV002252200
RCV002532038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129074.2:p.Arg464Trp
CA2299297
NM_001135602.3:c.1390C>T