ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913191741
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
631410
ClinVar RCV Id:
RCV000777620
RCV001036032
RCV003465703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2275Thr
CA382556516
NM_000051.4:c.6824T>C