ClinGen Allele Registry
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Canonical Allele Identifier:
PA190779
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164364
RCV000234176
RCV000485783
RCV001201232
RCV001355759
RCV003467292
ClinVar Variation:
185012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2287Glu
CA190777
NM_000051.4:c.6860G>A