Canonical Allele Identifier: PA2825040260
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Lys344Asn
CA7738413
NM_000057.4:c.1032A>T
CA393842139
NM_000057.4:c.1032A>C