ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031833
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000220780
RCV001318667
ClinVar Variation:
230581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr528Ala
CA10579015
NM_001351834.2:c.1582A>G