ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802201
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000628021
ClinVar Variation:
524320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His2981Tyr
CA382530122
NM_000051.4:c.8941C>T