ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034931
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199662
ClinVar RCV Id:
RCV000181011
RCV000214902
RCV000537344
RCV000486041
RCV002465556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2911Ile
CA203836
NM_001351834.2:c.8732C>T