ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034640
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231772
ClinVar RCV Id:
RCV000219954
RCV000486028
RCV000701187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2713Lys
CA10579283
NM_001351834.2:c.8138G>A