Allele Registry

Canonical Allele Identifier: PA2580197091

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV002326040

ClinVar Variation:

1727700

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Cys661Tyr	CA393846850 NM_001287248.2:c.1982G>A