Canonical Allele Identifier: PA2573192043
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Asp790Glu
CA393847728
NM_001287248.2:c.2370C>A
CA393847729
NM_001287248.2:c.2370C>G