Allele Registry

Canonical Allele Identifier: PA916015869

Gene: BLM HGNC NCBI

ClinVar Allele:

477234

ClinVar RCV:

RCV000562284

RCV001313055

ClinVar Variation:

485353

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Gln403His	CA393842555 NM_001287247.2:c.1209G>C CA393842556 NM_001287247.2:c.1209G>T