ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827629151
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120147
RCV000165208
RCV000205193
RCV000656755
RCV000764932
RCV003460845
ClinVar Variation:
133625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys92Thr
CA157141
NM_001351834.2:c.275A>C