ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827630108
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481162
ClinVar RCV Id:
RCV000567749
RCV000707181
RCV003235290
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Gln65Arg
CA6264535
NM_001351835.2:c.194A>G