Canonical Allele Identifier: PA2580197085
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1799452
ClinVar RCV Id: RCV002444299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Leu648Phe
CA393846758
NM_001287248.2:c.1944G>C
CA393846759
NM_001287248.2:c.1944G>T