Canonical Allele Identifier: PA916015749
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Asp219Glu
CA393841269
NM_001287247.2:c.657T>A
CA393841270
NM_001287247.2:c.657T>G