ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032043
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184752
ClinVar RCV Id:
RCV000164063
RCV000168071
RCV000219263
RCV000780902
RCV003150012
RCV003316015
RCV003483533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg692Cys
CA189945
NM_001351834.2:c.2074C>T