Canonical Allele Identifier: PA2825041476
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1470108
ClinVar RCV Id: RCV001973179 RCV002442965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu1017Gly
CA393846716
NM_000057.4:c.3050A>G