ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193096
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000165327
RCV000457425
RCV001529786
RCV002247570
RCV003313782
RCV003468741
ClinVar Variation:
185832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2719Cys
CA193094
NM_000051.4:c.8155C>T