ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580206775
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002421446
ClinVar Variation:
1762241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2722Met
CA382562480
NM_001351834.2:c.8164C>A