ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673457
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453593
ClinVar RCV Id:
RCV000558820
RCV001024352
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala188Asp
CA382527781
NM_000051.4:c.563C>A