Allele Registry

Canonical Allele Identifier: PA093426

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000005790

ClinVar Variation:

5457

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Cys1036Phe	CA253496 NM_000057.4:c.3107G>T