ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032265
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231030
ClinVar RCV Id:
RCV000223362
RCV000228371
RCV002282057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser853Pro
CA10579061
NM_001351834.2:c.2557T>C