ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033828
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453616
ClinVar RCV Id:
RCV000539253
RCV000560976
RCV003470677
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln2066Glu
CA382550803
NM_001351834.2:c.6196C>G