ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034335
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127443
ClinVar RCV Id:
RCV000115249
RCV000119204
RCV000202803
RCV000589438
RCV001356727
RCV001798325
RCV004549571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys2464Arg
CA249000
NM_001351834.2:c.7390T>C