ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034105
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
640491
ClinVar RCV Id:
RCV000793530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2288Asp
CA382556741
NM_001351834.2:c.6863T>A