Canonical Allele Identifier: PA2825040235
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 823581
ClinVar RCV Id: RCV001019943 RCV002550854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Glu332Gln
CA393842054
NM_000057.4:c.994G>C