ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826738093
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001801116
RCV001869452
ClinVar Variation:
1330099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.His963Tyr
CA344516
NM_001287246.2:c.2887C>T