ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669849
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481045
ClinVar RCV Id:
RCV000567229
RCV001228477
RCV002248782
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2031Ile
CA382550213
NM_000051.4:c.6092C>T