ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669772
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481292
ClinVar RCV Id:
RCV000566553
RCV000627987
RCV003465193
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1973Lys
CA382548611
NM_000051.4:c.5918G>A