Allele Registry

Canonical Allele Identifier: PA916016568

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001020553

ClinVar Variation:

823903

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Val805Ile	CA393847819 NM_001287248.2:c.2413G>A