ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032038
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
820602
ClinVar RCV Id:
RCV001014225
RCV003605702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser689Leu
CA382537506
NM_001351834.2:c.2066C>T