ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016568
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Val805Ile
CA393847819
NM_001287248.2:c.2413G>A