ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504688
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229723
ClinVar RCV Id:
RCV000217725
RCV000229175
RCV000478838
RCV001818515
RCV003468980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2776Thr
CA6266352
NM_000051.4:c.8327T>C