ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573191748
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Val711Ile
CA393844622
NM_001287247.2:c.2131G>A