ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827577245
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3222662
ClinVar RCV Id:
RCV004516046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala2308Asp
CA382557100
NM_001351834.2:c.6923C>A