ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286977
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127440
ClinVar RCV Id:
RCV000115246
RCV000200256
RCV000515201
RCV000589408
RCV001354272
RCV002225326
RCV001260260
RCV004549569
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2438Ile
CA286975
NM_000051.4:c.7313C>T