ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032371
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
567820
ClinVar RCV Id:
RCV000688002
RCV000773583
RCV003320206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala921Thr
CA382545474
NM_001351834.2:c.2761G>A