Canonical Allele Identifier: PA2826738211
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1799269
ClinVar RCV Id: RCV002444116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Glu1017Asp
CA393846718
NM_001287246.2:c.3051A>T
CA393846719
NM_001287246.2:c.3051A>C