ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503255
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000222325
RCV000587287
RCV000627966
RCV003469066
ClinVar Variation:
233138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys1873Tyr
CA10579188
NM_000051.4:c.5618G>A