ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032203
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142345
ClinVar RCV Id:
RCV000131419
RCV000168043
RCV000484154
RCV000779790
RCV001762310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile826Leu
CA168126
NM_001351834.2:c.2476A>C