ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825040234
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2586889
ClinVar RCV Id:
RCV003341928
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Glu332Ala
CA393842056
NM_000057.4:c.995A>C