ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825030590
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001018311
ClinVar Variation:
822726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys293Glu
CA382529557
NM_000051.4:c.877A>G