Canonical Allele Identifier: PA658802583
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524814
ClinVar RCV Id: RCV000628682 RCV001020473 RCV001800832 RCV003153769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ala1169Thr
CA7739047
NM_000057.4:c.3505G>A