ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503826
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231363
ClinVar RCV Id:
RCV000218733
RCV000485580
RCV003338466
RCV000701716
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2457Ala
CA6266104
NM_000051.4:c.7370A>C