ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286749
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127346
ClinVar RCV Id:
RCV000115151
RCV000205470
RCV000589762
RCV000515206
RCV001798310
RCV003460800
RCV002469010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser759Gly
CA286747
NM_000051.4:c.2275A>G