Canonical Allele Identifier: PA2826738848
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1195931
ClinVar RCV Id: RCV001559217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Asp1316His
CA393850811
NM_001287246.2:c.3946G>C