ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827630084
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233820
ClinVar RCV Id:
RCV000222411
RCV000627984
RCV002265695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Asp58Tyr
CA10578947
NM_001351835.2:c.172G>T