ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091793
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141123
ClinVar RCV Id:
RCV000129488
RCV000486107
RCV000675169
RCV002483260
RCV004019731
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile323Val
CA164527
NM_000051.4:c.967A>G