ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033505
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132865
ClinVar RCV:
RCV000115213
RCV000167908
RCV000212029
RCV001281031
RCV001804843
RCV003460806
RCV004549558
ClinVar Variation:
127408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1830Thr
CA286894
NM_001351834.2:c.5489T>C