ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195171
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186558
ClinVar RCV Id:
RCV000166173
RCV000667954
RCV001795288
RCV002221504
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1046Pro
CA195169
NM_000051.4:c.3137T>C