Canonical Allele Identifier: PA093426
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 5457
ClinVar RCV Id: RCV000005790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Cys1036Phe
CA253496
NM_000057.4:c.3107G>T