ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825034220
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040289
ClinVar RCV Id:
RCV001343901
RCV003355411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met1909Thr
CA6265763
NM_000051.4:c.5726T>C