Allele Registry

Canonical Allele Identifier: PA2826738918

Gene: BLM HGNC NCBI

ClinVar RCV:

RCV000472912

RCV001021769

ClinVar Variation:

405309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Ser1353Arg	CA16614823 NM_001287246.2:c.4059T>A CA393851508 NM_001287246.2:c.4057A>C CA393851518 NM_001287246.2:c.4059T>G