ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205425
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2125874
ClinVar RCV Id:
RCV003043838
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2122Ile
CA382553217
NM_001351834.2:c.6365C>T