ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580197355
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1927223
ClinVar RCV Id:
RCV002631063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Glu943Lys
CA393850845
NM_001287248.2:c.2827G>A