ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845349
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580840
ClinVar RCV Id:
RCV000704498
RCV003465632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2311Val
CA6266033
NM_000051.4:c.6931A>G