Canonical Allele Identifier: PA2826738080
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2042658
ClinVar RCV Id: RCV002917645 RCV004066078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Val958Leu
CA393846320
NM_001287246.2:c.2872G>T
CA393846321
NM_001287246.2:c.2872G>C