ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032073
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265336
ClinVar RCV Id:
RCV000255958
RCV002429195
RCV002521852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val716Asp
CA10588493
NM_001351834.2:c.2147T>A