ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825036052
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2176686
ClinVar RCV:
RCV003025027
RCV003358053
ClinVar Variation:
2120190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2719Pro
CA382562340
NM_000051.4:c.8156G>C