ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA293956
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000129082
RCV000199664
RCV000211982
RCV000587618
RCV003492583
RCV004551237
ClinVar Variation:
140867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg832Cys
CA293954
NM_000051.4:c.2494C>T