ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197332
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1735916
ClinVar RCV Id:
RCV002357418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Gly923Glu
CA393850440
NM_001287248.2:c.2768G>A