ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035013
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000167148
RCV000537024
ClinVar Variation:
187422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Leu2980Ile
CA197606
NM_001351834.2:c.8938C>A