ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827629918
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000219832
RCV000536856
ClinVar Variation:
229721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.His17Asn
CA6264501
NM_001351835.2:c.49C>A