ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032872
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181952
ClinVar RCV Id:
RCV000159719
RCV000212005
RCV000398586
RCV002281973
RCV002288672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr1300Cys
CA298232
NM_001351834.2:c.3899A>G