Canonical Allele Identifier: PA916016028
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 188963
ClinVar RCV Id: RCV000169338 RCV001014085 RCV001310295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Gln672Arg
CA274191
NM_001287247.2:c.2015A>G