ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033686
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481292
ClinVar RCV Id:
RCV000566553
RCV000627987
RCV003465193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1973Lys
CA382548611
NM_001351834.2:c.5918G>A