ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499251009
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1037011
ClinVar RCV Id:
RCV001340099
RCV002246317
RCV004035920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu690Met
CA382537510
NM_001351834.2:c.2068C>A