ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032266
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524422
ClinVar RCV Id:
RCV000628202
RCV002431838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser853Leu
CA382543782
NM_001351834.2:c.2558C>T