Allele Registry

Canonical Allele Identifier: PA2826736382

Gene: BLM HGNC NCBI

ClinVar Allele:

400575

1803158

ClinVar RCV:

RCV000472724

RCV001024105

RCV002349459

RCV003492048

ClinVar Variation:

405277

1747407

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Ser181Arg	CA7738307 NM_001287246.2:c.543C>A CA393841014 NM_001287246.2:c.541A>C CA393841018 NM_001287246.2:c.543C>G