ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286707
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127328
ClinVar RCV Id:
RCV000115131
RCV000204640
RCV000211955
RCV001174655
RCV001257472
RCV001354564
RCV003492451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg337His
CA286705
NM_000051.4:c.1010G>A