ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580202557
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1779173
ClinVar RCV Id:
RCV002401382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly335Val
CA382531383
NM_001351834.2:c.1004G>T