Canonical Allele Identifier: PA157438
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127518
ClinVar RCV Id: RCV000120244 RCV000226028 RCV000575545 RCV000656781 RCV003492470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Lys323Arg
CA157436
NM_000057.4:c.968A>G