ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033534
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133623
ClinVar RCV Id:
RCV000120145
RCV000128902
RCV000122859
RCV000513231
RCV001358294
RCV002225361
RCV001798378
RCV003224156
RCV001262813
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp1853Val
CA157135
NM_001351834.2:c.5558A>T