Canonical Allele Identifier: PA2826741528
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2130047
ClinVar RCV Id: RCV003050309 RCV003170949
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Glu610Asp
CA274764715
NM_001287248.2:c.1830A>C
CA393846491
NM_001287248.2:c.1830A>T