ClinGen Allele Registry
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Canonical Allele Identifier:
PA916016408
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.His639Arg
CA7738930
NM_001287248.2:c.1916A>G