ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034806
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186122
ClinVar RCV Id:
RCV000165657
RCV000485679
RCV000628018
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe2827Ile
CA193918
NM_001351834.2:c.8479T>A