ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826738922
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1504545
ClinVar RCV Id:
RCV002028880
RCV004046122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274175.1:p.Gly1354Asp
CA393851524
NM_001287246.2:c.4061G>A