Canonical Allele Identifier: PA916016474
Gene: BLM HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Val710Leu
CA7738977
NM_001287248.2:c.2128G>T
CA393847190
NM_001287248.2:c.2128G>C