Canonical Allele Identifier: PA2825042021
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Asp1316Glu
CA7739168
NM_000057.4:c.3948C>A
CA393850825
NM_000057.4:c.3948C>G