ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205752
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1707973
ClinVar RCV Id:
RCV002287134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2252Ile
CA382555300
NM_001351834.2:c.6755C>T