Canonical Allele Identifier: PA645487991
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000048.1:p.Gly1134Ter
NM_000057.4:c.[3399del;3401G>T;3403T>A]

NM_000057.4:c.[3399del;3401G>T;3403T>G]

NM_000057.4:c.3400G>T