ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031414
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000574948
RCV000627910
RCV000780889
RCV001549733
ClinVar Variation:
482726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys219Arg
CA6264641
NM_001351834.2:c.655T>C