ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826741515
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1006804
ClinVar RCV Id:
RCV001303904
RCV002437029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Ser602Ala
CA274764681
NM_001287248.2:c.1804T>G