ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674172
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
485195
ClinVar RCV Id:
RCV000561287
RCV000687020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr935Ala
CA228407759
NM_000051.4:c.2803A>G