Canonical Allele Identifier: PA2826736168
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127493
ClinVar RCV Id: RCV000203080 RCV000462198 RCV000561733 RCV000656777
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Asn92Asp
CA249282
NM_001287246.2:c.274A>G