Allele Registry

Canonical Allele Identifier: PA916015645

Gene: BLM HGNC NCBI

ClinVar Allele:

529142

ClinVar RCV:

RCV000628616

RCV002431843

RCV003432654

ClinVar Variation:

524757

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Gln83Arg	CA274727856 NM_001287247.2:c.248A>G