ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032836
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165498
RCV000206887
RCV000590439
RCV000763700
RCV001798592
RCV003462176
RCV004552911
ClinVar Variation:
185981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys1269Arg
CA193557
NM_001351834.2:c.3806A>G