Allele Registry

Canonical Allele Identifier: PA2826739842

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000034904

RCV000569697

ClinVar Variation:

42078

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Cys1055Ser	CA298493 NM_001287247.2:c.3164G>C CA393846976 NM_001287247.2:c.3163T>A