Canonical Allele Identifier: PA2826739821
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454129
ClinVar RCV Id: RCV001018756 RCV000556376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Tyr1044Cys
CA7738942
NM_001287247.2:c.3131A>G