ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057525599
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3834811
ClinVar RCV:
RCV005178534
ClinVar Variation:
3702210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu642Gln
CA382536486
NM_001351834.2:c.1924G>C