ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033361
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132857
ClinVar RCV:
RCV000115205
RCV000200336
RCV000212027
RCV000515379
RCV000779803
RCV001354115
RCV001798319
RCV002225320
RCV004549556
ClinVar Variation:
127400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1697Ala
CA286873
NM_001351834.2:c.5089A>G