ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167271
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142055
ClinVar RCV Id:
RCV000130863
RCV000627888
RCV000482134
RCV004527323
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2849Gln
CA167269
NM_000051.4:c.8546G>A