ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294033
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000122833
RCV000129351
RCV000586568
RCV002223130
RCV002825311
RCV004551196
ClinVar Variation:
135744
2005561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr761Ser
CA294031
NM_000051.4:c.2281A>T
CA6264991
NM_000051.4:c.2282C>G