ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826740957
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Val346Ile
CA7738669
NM_001287248.2:c.1036G>A