Allele Registry

Canonical Allele Identifier: PA916015770

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000628619

RCV001026183

RCV002275094

ClinVar Variation:

524760

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Gly241Asp	CA7738336 NM_001287247.2:c.722G>A