ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504812
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429065
ClinVar RCV Id:
RCV000492899
RCV002527069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2832Pro
CA382518107
NM_000051.4:c.8495G>C