ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580196600
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1787797
ClinVar RCV Id:
RCV002425894
RCV003098718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Thr738Ile
CA393844803
NM_001287247.2:c.2213C>T