ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286875
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127400
ClinVar RCV Id:
RCV000115205
RCV000200336
RCV000212027
RCV000515379
RCV000779803
RCV001798319
RCV001354115
RCV004549556
RCV002225320
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr1697Ala
CA286873
NM_000051.4:c.5089A>G