ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205667
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1754747
ClinVar RCV Id:
RCV002366909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro2222Ala
CA382554853
NM_001351834.2:c.6664C>G