ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825035206
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1513356
ClinVar RCV Id:
RCV002026129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2345Ser
CA382558859
NM_000051.4:c.7034T>C