ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032451
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233765
ClinVar RCV Id:
RCV000232860
RCV000218833
RCV001582756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Cys977Tyr
CA10579077
NM_001351834.2:c.2930G>A