ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826738257
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002326040
ClinVar Variation:
1727700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.Cys1036Tyr
CA393846850
NM_001287246.2:c.3107G>A