ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033357
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000462765
RCV000481315
RCV000583320
RCV003492053
ClinVar Variation:
407631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala1694Thr
CA6265627
NM_001351834.2:c.5080G>A