Canonical Allele Identifier: PA645487890
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 413284
ClinVar RCV Id: RCV000566370 RCV000590533 RCV001080152 RCV001030683 RCV003151068 RCV003899947
ClinVar Variation Id: 567994
ClinVar RCV Id: RCV000688216 RCV003163119
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Met348Ile
CA7738414
NM_000057.4:c.1044G>A
CA393842167
NM_000057.4:c.1044G>C
CA393842168
NM_000057.4:c.1044G>T