ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA189282
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184552
ClinVar RCV Id:
RCV000163825
RCV000205271
RCV000515444
RCV000589287
RCV003492681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp841Ala
CA189280
NM_000051.4:c.2522A>C