ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670136
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481088
ClinVar RCV Id:
RCV000561538
RCV003605634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2335Pro
CA382558662
NM_000051.4:c.7003A>C