Allele Registry

Canonical Allele Identifier: PA2825041792

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV001020553

ClinVar Variation:

823903

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Val1180Ile	CA393847819 NM_000057.4:c.3538G>A