ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034103
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185012
ClinVar RCV Id:
RCV000164364
RCV000234176
RCV000485783
RCV001355759
RCV001201232
RCV003467292
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly2287Glu
CA190777
NM_001351834.2:c.6860G>A