ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033182
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
137359
ClinVar RCV:
RCV000120140
RCV000166074
RCV000200014
RCV000656761
RCV003467069
ClinVar Variation:
133620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu1553Ala
CA157122
NM_001351834.2:c.4658A>C