ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139733254
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
928470
ClinVar RCV Id:
RCV001192365
RCV001372688
RCV002480640
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu432Arg
CA382533567
NM_001351834.2:c.1295T>G