Canonical Allele Identifier: PA2826740099
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524764
ClinVar Variation Id: 824387

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Gly1177Arg
CA7739162
NM_001287247.2:c.3529G>A
CA393850611
NM_001287247.2:c.3529G>C