ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827628515
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132385
RCV000233534
RCV000236602
RCV001197402
RCV001355326
RCV002465534
ClinVar Variation:
142913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg32Cys
CA169733
NM_001351834.2:c.94C>T