ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825031670
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002296252
ClinVar Variation:
1717073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys764Gln
CA382539714
NM_000051.4:c.2290A>C