ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032532
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000537780
RCV000580540
ClinVar Variation:
453448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu1031Val
CA382515059
NM_001351834.2:c.3092A>T