ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670140
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453655
ClinVar RCV Id:
RCV000540394
RCV000570088
RCV002490927
RCV003330746
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2339Lys
CA382558737
NM_000051.4:c.7016G>A