ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157417
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133708
ClinVar RCV Id:
RCV000120237
RCV000224918
RCV000234547
RCV000570211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Glu140Gly
CA157415
NM_000057.4:c.419A>G