ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294336
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142249
ClinVar RCV Id:
RCV000131262
RCV000203831
RCV000589725
RCV001356460
RCV002265616
RCV002483265
RCV003474776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2853Met
CA294334
NM_000051.4:c.8558C>T