Canonical Allele Identifier: PA2499245786
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Glu377Asp
CA393842377
NM_001287247.2:c.1131G>C
CA393842378
NM_001287247.2:c.1131G>T