ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031546
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
478985
ClinVar RCV Id:
RCV000573160
RCV002527968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp317Tyr
CA382530854
NM_001351834.2:c.949G>T