ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658742658
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489559
ClinVar RCV Id:
RCV000580622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp1853Ile
CA658683126
NM_000051.4:c.5557_5558delinsAT