ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344518
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1330099
ClinVar RCV Id:
RCV001801116
RCV001869452
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.His963Tyr
CA344516
NM_000057.4:c.2887C>T