ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033472
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219484
ClinVar RCV Id:
RCV000206668
RCV000566874
RCV001354647
RCV002288821
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile1792Thr
CA350670
NM_001351834.2:c.5375T>C