ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031767
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000557761
RCV000777262
ClinVar Variation:
453365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln476Arg
CA382534030
NM_001351834.2:c.1427A>G