ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573191958
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1683324
ClinVar RCV Id:
RCV002238623
RCV002443273
RCV003093921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Arg641Thr
CA393846708
NM_001287248.2:c.1922G>C