ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032060
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000204432
RCV000780879
RCV001180108
RCV001778793
ClinVar Variation:
219803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile709Val
CA348661
NM_001351834.2:c.2125A>G