ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674348
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453470
ClinVar RCV Id:
RCV000558586
RCV002341233
RCV003470667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser1163Tyr
CA6265299
NM_000051.4:c.3488C>A