ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825035154
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1035414
ClinVar RCV Id:
RCV001338278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2316Asn
CA382557297
NM_000051.4:c.6947T>A