ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034491
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229826
ClinVar RCV Id:
RCV000223451
RCV001689753
RCV000463904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2598Gln
CA6266194
NM_001351834.2:c.7793G>A