ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033831
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489568
ClinVar RCV Id:
RCV000579619
RCV000779043
RCV003336057
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2068Ser
CA382551029
NM_001351834.2:c.6203T>C