Allele Registry

Canonical Allele Identifier: PA658678043

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000562284

RCV001313055

ClinVar Variation:

485353

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Gln403His	CA393842555 NM_000057.4:c.1209G>C CA393842556 NM_000057.4:c.1209G>T