ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034609
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230098
ClinVar RCV Id:
RCV000218643
RCV000236137
RCV000628082
RCV004547528
RCV000764948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2691His
CA10579281
NM_001351834.2:c.8072G>A