ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032660
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000219396
RCV000695904
ClinVar Variation:
232533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln1128Glu
CA10579103
NM_001351834.2:c.3382C>G