ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032931
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479028
ClinVar RCV Id:
RCV000568405
RCV001235770
RCV003470807
RCV003114681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.His1352Arg
CA228371475
NM_001351834.2:c.4055A>G