ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033330
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141976
ClinVar RCV Id:
RCV000130731
RCV000205355
RCV000481018
RCV003461998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro1680Leu
CA166999
NM_001351834.2:c.5039C>T