ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741867533
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2760064
ClinVar RCV Id:
RCV003500218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2356Thr
CA382559067
NM_001351834.2:c.7067T>C