Canonical Allele Identifier: PA2825040114
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Lys273Asn
CA393841653
NM_000057.4:c.819G>T
CA393841654
NM_000057.4:c.819G>C