Canonical Allele Identifier: PA2825040232
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 823551
ClinVar RCV Id: RCV001019888 RCV002550852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Lys331Glu
CA393842044
NM_000057.4:c.991A>G