Canonical Allele Identifier: PA2825041409
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2452569
ClinVar RCV Id: RCV003177343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu976Gly
CA393846433
NM_000057.4:c.2927A>G