Canonical Allele Identifier: PA2826741139
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Trp428Arg
CA7738769
NM_001287248.2:c.1282T>C
CA393845247
NM_001287248.2:c.1282T>A