ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016652
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
584897
ClinVar RCV Id:
RCV000709371
RCV002352229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Met964Thr
CA7739173
NM_001287248.2:c.2891T>C