ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157064
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000120116
RCV000122821
RCV000129230
RCV000515290
RCV000589072
RCV001355212
RCV001798377
RCV001843478
RCV002243780
ClinVar Variation:
133603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys532Tyr
CA157062
NM_000051.4:c.1595G>A