ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502689
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418931
ClinVar RCV Id:
RCV000480952
RCV003298545
RCV002525783
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1332Leu
CA16619171
NM_000051.4:c.3994A>C