ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826741520
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
822309
ClinVar RCV Id:
RCV001017573
RCV002550831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274177.1:p.Ala605Thr
CA274764690
NM_001287248.2:c.1813G>A