ClinGen Allele Registry
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Canonical Allele Identifier:
PA916016526
Gene: BLM
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001274177.1:p.Gly759Ter
NM_001287248.2:c.[2274del;2276G>T;2278T>A...
NM_001287248.2:c.[2274del;2276G>T;2278T>G...
NM_001287248.2:c.2275G>T