ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825041415
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
822309
ClinVar RCV Id:
RCV001017573
RCV002550831
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ala980Thr
CA274764690
NM_000057.4:c.2938G>A