ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166826
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141932
ClinVar RCV Id:
RCV000130648
RCV000484463
RCV000538544
RCV001194272
RCV001535791
RCV003149900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1688Thr
CA166824
NM_000051.4:c.5063T>C