ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499245942
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1195932
ClinVar RCV Id:
RCV001559218
RCV002440797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Met631Lys
CA393846624
NM_001287248.2:c.1892T>A