ClinGen Allele Registry
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Canonical Allele Identifier:
PA916035056
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
151901
ClinVar RCV:
RCV000131173
RCV000169274
RCV000212096
RCV003162585
RCV003474775
ClinVar Variation:
142187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg3008Cys
CA294307
NM_001351834.2:c.9022C>T