ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033075
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127390
ClinVar RCV Id:
RCV000115195
RCV000206408
RCV000515407
RCV000588453
RCV001257473
RCV002225319
RCV002509222
RCV003492458
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu1472Val
CA286849
NM_001351834.2:c.4414T>G