ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286909
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127413
ClinVar RCV Id:
RCV000115218
RCV000195828
RCV000763707
RCV000589184
RCV001799619
RCV001263508
RCV003237337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr1961Cys
CA286907
NM_000051.4:c.5882A>G