ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826741231
Gene: BLM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Thr468Ile
CA274743571
NM_001287248.2:c.1403C>T