ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286956
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127433
ClinVar RCV Id:
RCV000115238
RCV000122882
RCV000212054
RCV000587802
RCV002225325
RCV003492466
RCV004549566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2330Val
CA286954
NM_000051.4:c.6988C>G