ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032564
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119124
RCV000120131
RCV000130988
RCV001357969
RCV001538534
RCV002225346
RCV003315702
ClinVar Variation:
132695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro1054Arg
CA157098
NM_001351834.2:c.3161C>G