ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741856108
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2566834
ClinVar RCV Id:
RCV003306765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Met964Val
CA393851263
NM_001287248.2:c.2890A>G