ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139730252
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001223329
ClinVar Variation:
951419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp2721Tyr
CA382562474
NM_001351834.2:c.8161G>T