Canonical Allele Identifier: PA2826738149
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1055155
ClinVar RCV Id: RCV001363777
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Phe992Leu
CA393846532
NM_001287246.2:c.2974T>C
CA393846536
NM_001287246.2:c.2976C>A
CA393846537
NM_001287246.2:c.2976C>G