Canonical Allele Identifier: PA645487969
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 236810
ClinVar RCV Id: RCV000228961 RCV000563912 RCV001538791 RCV001804962 RCV003907844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.His1014Arg
CA7738930
NM_000057.4:c.3041A>G