ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031521
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478072
RCV002376882
RCV002525879
ClinVar Variation:
421687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys296Arg
CA16619102
NM_001351834.2:c.887A>G