ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034295
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127440
ClinVar RCV Id:
RCV000115246
RCV000200256
RCV000515201
RCV000589408
RCV001354272
RCV002225326
RCV001260260
RCV004549569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2438Ile
CA286975
NM_001351834.2:c.7313C>T