ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034614
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485233
ClinVar RCV Id:
RCV000575375
RCV000695768
RCV001356533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly2695Cys
CA382562037
NM_001351834.2:c.8083G>T