ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580197009
Gene: BLM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1798516
ClinVar RCV Id:
RCV002442330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274176.1:p.Asp997Gly
CA393846568
NM_001287247.2:c.2990A>G