ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845383
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
566595
ClinVar RCV Id:
RCV000686444
RCV001027152
RCV003235347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2695del
CA645598125
NM_000051.4:c.8082_8084del