ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032926
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141486
ClinVar RCV Id:
RCV000130040
RCV000543134
RCV000589125
RCV001255215
RCV002478391
RCV003467129
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1350Met
CA165587
NM_001351834.2:c.4049C>T