ClinGen Allele Registry
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Canonical Allele Identifier:
PA916034097
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000584516
RCV001210197
ClinVar Variation:
490677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr2281His
CA382556640
NM_001351834.2:c.6841T>C