ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034842
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142055
ClinVar RCV Id:
RCV000130863
RCV000627888
RCV000482134
RCV004527323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2849Gln
CA167269
NM_001351834.2:c.8546G>A