ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032298
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164332
RCV000476653
RCV000479991
RCV002225480
RCV002465546
RCV003467290
ClinVar Variation:
184982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala869Gly
CA190672
NM_001351834.2:c.2606C>G