ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031559
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232166
ClinVar RCV Id:
RCV000213925
RCV000627952
RCV003469052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser328del
CA10578988
NM_001351834.2:c.984_986del