ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033807
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481290
ClinVar RCV Id:
RCV000575718
RCV001208530
RCV001779010
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2055Val
CA6265870
NM_001351834.2:c.6163A>G