Canonical Allele Identifier: PA2826737228
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405306
ClinVar RCV Id: RCV000472965 RCV002402236
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Thr547Ile
CA7738567
NM_001287246.2:c.1640C>T