ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355433
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220998
ClinVar RCV Id:
RCV000204593
RCV000575393
RCV003235130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His1474Asn
CA348817
NM_000051.4:c.4420C>A