ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032996
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
824540
ClinVar RCV Id:
RCV001021757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1351Ile
CA382527911
NM_000051.4:c.4051T>A