ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033559
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000168364
RCV000221360
RCV000236794
RCV003468831
ClinVar Variation:
188339
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1871Ile
CA334655
NM_001351834.2:c.5612C>T