ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034836
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000167366
RCV000473223
RCV000779779
RCV001562843
ClinVar Variation:
187621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2844Val
CA198113
NM_001351834.2:c.8530A>G