Canonical Allele Identifier: PA2825042065
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 848759
ClinVar RCV Id: RCV001052584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ser1342Phe
CA7739176
NM_000057.4:c.4025C>T