ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032304
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133610
ClinVar RCV Id:
RCV000120126
RCV000128879
RCV000204457
RCV000224090
RCV001354699
RCV002221489
RCV002225358
RCV002498555
RCV003149820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro872Ser
CA157083
NM_001351834.2:c.2614C>T