ClinGen Allele Registry
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Canonical Allele Identifier:
PA916034487
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127449
ClinVar RCV Id:
RCV000115255
RCV000197623
RCV000588147
RCV001257470
RCV002228249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln2593Arg
CA286997
NM_001351834.2:c.7778A>G