ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658742372
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000580309
RCV001243455
ClinVar Variation:
489558
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1775Ser
CA382543019
NM_000051.4:c.5324T>C