ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032253
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407486
ClinVar RCV Id:
RCV000474494
RCV002451101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu848Gly
CA16613369
NM_001351834.2:c.2543A>G