ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825034948
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1468763
ClinVar RCV Id:
RCV001970735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2233Thr
CA382554927
NM_000051.4:c.6698T>C