ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032310
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000235396
RCV000456860
RCV000562612
RCV002288935
ClinVar Variation:
246364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile879Thr
CA6265070
NM_001351834.2:c.2636T>C