ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033517
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453584
ClinVar RCV Id:
RCV000527814
RCV000563014
RCV003492090
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu1842Phe
CA228389689
NM_001351834.2:c.5524C>T