ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033768
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115223
RCV000212038
RCV000457673
RCV001358622
RCV002288590
RCV003320457
ClinVar Variation:
127418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2034Gln
CA286919
NM_001351834.2:c.6101G>A