ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032064
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000706609
RCV002422610
ClinVar Variation:
582517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr710Lys
CA382538647
NM_001351834.2:c.2129C>A