ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286710
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127329
ClinVar RCV Id:
RCV000115133
RCV000196425
RCV000211956
RCV000587788
RCV001355543
RCV002221486
RCV001798306
RCV004549537
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn358Ser
CA286708
NM_000051.4:c.1073A>G