ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826739757
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1470108
ClinVar RCV Id:
RCV001973179
RCV002442965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Glu1017Gly
CA393846716
NM_001287247.2:c.3050A>G