ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034051
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141137
ClinVar RCV Id:
RCV000129510
RCV000196259
RCV002262749
RCV003460894
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2247Val
CA164564
NM_001351834.2:c.6739A>G