ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031850
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1686474
ClinVar RCV Id:
RCV002246987
RCV003605776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu848Gln
CA382543653
NM_000051.4:c.2542G>C