ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032193
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407732
ClinVar RCV Id:
RCV000473412
RCV002446807
RCV003470444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys820Arg
CA16613280
NM_001351834.2:c.2459A>G