Allele Registry

Canonical Allele Identifier: PA287073

Gene: BLM HGNC NCBI

ClinVar Allele:

132942

ClinVar RCV:

RCV000115292

RCV000564057

RCV001082972

RCV001818263

RCV003407494

ClinVar Variation:

127485

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Leu788Ile	CA287071 NM_000057.4:c.2362C>A