Canonical Allele Identifier: PA645487972
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 405314
ClinVar RCV Id: RCV000467993 RCV002323685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ile1033Thr
CA16614557
NM_000057.4:c.3098T>C