ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034325
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000218733
RCV000485580
RCV000701716
RCV003338466
ClinVar Variation:
231363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu2457Ala
CA6266104
NM_001351834.2:c.7370A>C