ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169447
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142803
ClinVar RCV Id:
RCV000132224
RCV000471709
RCV000483286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr460Pro
CA169445
NM_000051.4:c.1378A>C