ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032745
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220809
ClinVar RCV Id:
RCV000204970
RCV000567287
RCV000726329
RCV002478738
RCV003462391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe1201Ile
CA349153
NM_001351834.2:c.3601T>A