Canonical Allele Identifier: PA2825042068
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1061952
ClinVar RCV Id: RCV001371617 RCV002357267
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Gln1343Arg
CA393851344
NM_000057.4:c.4028A>G