ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645499211
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000479676
RCV000628025
RCV002323837
ClinVar Variation:
422299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile389Val
CA16619108
NM_000051.4:c.1165A>G