Canonical Allele Identifier: PA2499245911
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1000412
ClinVar RCV Id: RCV001296536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Thr999Ile
CA393846583
NM_001287247.2:c.2996C>T