ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033162
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127393
ClinVar RCV Id:
RCV000115198
RCV000465699
RCV000679122
RCV004549554
RCV003114258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys1536Glu
CA286858
NM_001351834.2:c.4606A>G