ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286946
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127428
ClinVar RCV Id:
RCV000115233
RCV000168356
RCV000588207
RCV000757936
RCV004549565
RCV001798322
RCV002281932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2287Ala
CA286944
NM_000051.4:c.6860G>C