ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034583
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000205336
RCV000222128
RCV001193061
RCV001356715
ClinVar Variation:
219594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2666Ala
CA349494
NM_001351834.2:c.7996A>G