ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032100
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236685
ClinVar RCV Id:
RCV000226596
RCV000589621
RCV000572488
RCV003491991
RCV003469123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr741Cys
CA10582802
NM_001351834.2:c.2222A>G