ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916015798
Gene: BLM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000529811
RCV001017747
RCV003478103
ClinVar Variation:
454167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.His281Arg
CA393841709
NM_001287247.2:c.842A>G