Allele Registry

Canonical Allele Identifier: PA2826736786

Gene: BLM HGNC NCBI

Linked Data

ClinVar RCV:

RCV000566370

RCV000590533

RCV000688216

RCV001030683

RCV001080152

RCV003151068

RCV003163119

RCV003899947

ClinVar Variation:

413284

567994

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274175.1:p.Met348Ile	CA7738414 NM_001287246.2:c.1044G>A CA393842167 NM_001287246.2:c.1044G>C CA393842168 NM_001287246.2:c.1044G>T