ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670084
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478936
ClinVar RCV Id:
RCV000572551
RCV003114680
RCV001337338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2290Gln
CA382556762
NM_000051.4:c.6868G>C