Canonical Allele Identifier: PA916015866
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 485334
ClinVar RCV Id: RCV000565340 RCV000628690 RCV001800791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Glu399Lys
CA7738481
NM_001287247.2:c.1195G>A