ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205847
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2084281
ClinVar RCV Id:
RCV002994623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2293Met
CA382556803
NM_001351834.2:c.6877C>A