ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645505608
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000227223
RCV000569551
RCV000590595
RCV002057232
RCV003153520
ClinVar Variation:
236795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2998Thr
CA6266514
NM_000051.4:c.8993T>C