Canonical Allele Identifier: PA916015645
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524757
ClinVar RCV Id: RCV000628616 RCV002431843 RCV003432654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Gln83Arg
CA274727856
NM_001287247.2:c.248A>G