ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673386
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482556
ClinVar RCV Id:
RCV000567429
RCV003324770
RCV001045775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys141Tyr
CA6264606
NM_000051.4:c.422G>A