ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487883
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405275
ClinVar RCV Id:
RCV000460269
RCV001027122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000048.1:p.Ser269Gly
CA7738369
NM_000057.4:c.805A>G