ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801210
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524244
ClinVar RCV Id:
RCV000627872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu690Pro
CA382537515
NM_000051.4:c.2069T>C