Allele Registry

Canonical Allele Identifier: PA916016137

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120226

RCV000568596

RCV000628631

RCV001030455

ClinVar Variation:

133698

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Arg791Cys	CA157382 NM_001287247.2:c.2371C>T