ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033946
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231615
ClinVar RCV Id:
RCV000274807
RCV000529492
RCV000218229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys2148Arg
CA6265935
NM_001351834.2:c.6443A>G