ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658739697
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490516
ClinVar RCV Id:
RCV000582736
RCV000689583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1028Arg
CA382515010
NM_000051.4:c.3083T>G