Allele Registry

Canonical Allele Identifier: PA916015898

Gene: BLM HGNC NCBI

ClinVar Allele:

529487

2874663

ClinVar RCV:

RCV000628667

RCV001011740

RCV003317305

RCV003505950

ClinVar Variation:

524800

2709765

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Phe492Leu	CA7738540 NM_001287247.2:c.1474T>C CA393843139 NM_001287247.2:c.1476C>A CA393843140 NM_001287247.2:c.1476C>G