ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031539
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000167964
RCV000219840
RCV000481289
RCV003338436
ClinVar Variation:
188110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser310Gly
CA334063
NM_001351834.2:c.928A>G