ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033480
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219462
ClinVar RCV Id:
RCV000205064
RCV000570407
RCV001785516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile1804Phe
CA349227
NM_001351834.2:c.5410A>T