Canonical Allele Identifier: PA2826739773
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 317408
ClinVar RCV Id: RCV000312131 RCV001018448
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Tyr1024Cys
CA7738937
NM_001287247.2:c.3071A>G