Allele Registry

Canonical Allele Identifier: PA093438

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000034904

RCV000569697

ClinVar Variation:

42078

HGVS (amino-acid)	Matching Registered Transcripts
NP_000048.1:p.Cys1055Ser	CA298493 NM_000057.4:c.3164G>C CA393846976 NM_000057.4:c.3163T>A