ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031502
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037011
ClinVar RCV Id:
RCV001340099
RCV002246317
RCV004035920
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu690Met
CA382537510
NM_000051.4:c.2068C>A