ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032966
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1736788
ClinVar RCV Id:
RCV002375596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1332Val
CA382527409
NM_000051.4:c.3994A>G