Canonical Allele Identifier: PA2826740139
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1736668
ClinVar RCV Id: RCV002375525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Phe1195Leu
CA393850995
NM_001287247.2:c.3583T>C
CA393851011
NM_001287247.2:c.3585T>A
CA393851014
NM_001287247.2:c.3585T>G