ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674308
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482652
ClinVar RCV Id:
RCV002476234
RCV000575057
RCV000805700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp1103His
CA382517380
NM_000051.4:c.3307G>C