ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498949
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233276
ClinVar RCV Id:
RCV000222223
RCV001038222
RCV001658040
RCV003469071
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile326Thr
CA10578986
NM_000051.4:c.977T>C