ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034230
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127437
ClinVar RCV Id:
RCV000115242
RCV000494662
RCV000534806
RCV001171474
RCV003467031
RCV002483185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser2394Leu
CA286966
NM_001351834.2:c.7181C>T