Canonical Allele Identifier: PA273737
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 180588
ClinVar RCV Id: RCV000157586 RCV000561536 RCV003221828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu1317Lys
CA273735
NM_000057.4:c.3949G>A