Allele Registry

Canonical Allele Identifier: PA2826740864

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000667667

ClinVar Variation:

71979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.His285Tyr	CA274739524 NM_001287248.2:c.853C>T