ClinGen Allele Registry
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Canonical Allele Identifier:
PA115926
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
18058
ClinVar RCV:
RCV000003163
RCV000185637
RCV000206671
RCV000212075
RCV000417362
RCV000709706
RCV001355331
RCV001797988
RCV004547454
ClinVar Variation:
3019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2547_Ser2549del
CA115924
NM_000051.4:c.7638_7646del