ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033482
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186433
ClinVar RCV Id:
RCV000166025
RCV000232405
RCV001571325
RCV003462197
RCV003493474
RCV003491904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile1806Thr
CA194797
NM_001351834.2:c.5417T>C