Allele Registry

Canonical Allele Identifier: PA916015901

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000550747

RCV001011867

RCV001788276

ClinVar Variation:

454080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Gln497Pro	CA7738543 NM_001287247.2:c.1490A>C