ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035054
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141634
ClinVar RCV Id:
RCV000130230
RCV000196159
RCV000254719
RCV002281955
RCV003162582
RCV003467134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg3008His
CA165987
NM_001351834.2:c.9023G>A