ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033300
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184002
ClinVar RCV Id:
RCV000163104
RCV000486511
RCV000804749
RCV002228686
RCV002485008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser1655Tyr
CA187451
NM_001351834.2:c.4964C>A