ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032303
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
821569
ClinVar RCV Id:
RCV001016101
RCV003317416
RCV003500626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu871Lys
CA382544165
NM_001351834.2:c.2611G>A