Canonical Allele Identifier: PA2825040332
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu377Asp
CA393842377
NM_000057.4:c.1131G>C
CA393842378
NM_000057.4:c.1131G>T