Canonical Allele Identifier: PA2825040258
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 822017
ClinVar RCV Id: RCV001017013 RCV001827190 RCV003478627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Leu342Ser
CA393842125
NM_000057.4:c.1025T>C