Allele Registry

Canonical Allele Identifier: PA2826738839

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000115314

RCV000559638

RCV001021470

ClinVar Variation:

127506

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Ala1312Thr	CA287121 NM_001287246.2:c.3934G>A