ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499251027
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1062164
ClinVar RCV Id:
RCV001371850
RCV002368202
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2234Pro
CA382554942
NM_001351834.2:c.6701T>C