ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031875
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140916
ClinVar RCV Id:
RCV000129176
RCV000195658
RCV000416037
RCV000515396
RCV000855571
RCV001357003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg568Ile
CA294000
NM_001351834.2:c.1703G>T