Allele Registry

Canonical Allele Identifier: PA157393

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000120229

RCV001069669

RCV002321599

ClinVar Variation:

133700

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Ser1093Leu	CA157391 NM_000057.4:c.3278C>T