ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031776
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127338
ClinVar RCV Id:
RCV000115142
RCV000197378
RCV000211962
RCV000779759
RCV001762217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys482Gln
CA286729
NM_001351834.2:c.1444A>C