ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034746
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142378
ClinVar RCV Id:
RCV000131464
RCV000198515
RCV000479519
RCV002469022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp2785Asn
CA168194
NM_001351834.2:c.8353G>A