Canonical Allele Identifier: PA287089
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127494
ClinVar RCV Id: RCV000115302 RCV000473191 RCV000570913 RCV001824609
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Thr1015Ile
CA287087
NM_000057.4:c.3044C>T