Canonical Allele Identifier: PA916016000
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127480
ClinVar RCV Id: RCV000116502 RCV000211548 RCV000565415 RCV000857778 RCV003891606
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Arg643His
CA152050
NM_001287247.2:c.1928G>A