ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033251
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
183304
ClinVar RCV:
RCV000164315
RCV000228294
RCV000994709
RCV003474856
ClinVar Variation:
184966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg1618Gln
CA190612
NM_001351834.2:c.4853G>A