ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827628553
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
233895
ClinVar RCV:
RCV000222411
RCV000627984
RCV002265695
ClinVar Variation:
233820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asp58Tyr
CA10578947
NM_001351834.2:c.172G>T