ClinGen Allele Registry
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Canonical Allele Identifier:
PA916034330
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
183391
ClinVar RCV:
RCV000165342
RCV000197298
RCV000512906
RCV000764943
RCV001193059
RCV002288746
RCV003491896
ClinVar Variation:
185845
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2459Cys
CA193139
NM_001351834.2:c.7375C>T