ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031748
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141561
ClinVar RCV Id:
RCV000130139
RCV000466948
RCV000478287
RCV001196781
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr460Met
CA165785
NM_001351834.2:c.1379C>T