Canonical Allele Identifier: PA2826738248
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 485362
ClinVar RCV Id: RCV000562962 RCV001316694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Thr1034Met
CA7738939
NM_001287246.2:c.3101C>T