Canonical Allele Identifier: PA2499245889
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Trp803Arg
CA7738769
NM_001287247.2:c.2407T>C
CA393845247
NM_001287247.2:c.2407T>A