ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034611
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133636
ClinVar RCV Id:
RCV000120161
RCV000199628
RCV000131504
RCV000587628
RCV001250430
RCV003153382
RCV002492419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2691Cys
CA157180
NM_001351834.2:c.8071C>T