ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500933
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407732
ClinVar RCV Id:
RCV000473412
RCV002446807
RCV003470444
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys820Arg
CA16613280
NM_000051.4:c.2459A>G