ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503847
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231188
ClinVar RCV Id:
RCV000215037
RCV001042097
RCV003153502
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2496Glu
CA6266113
NM_000051.4:c.7487G>A