ClinGen Allele Registry
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Canonical Allele Identifier:
PA645499140
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
244582
ClinVar RCV:
RCV000236390
RCV001857816
ClinVar Variation:
246391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser367Pro
CA10584321
NM_000051.4:c.1099T>C