ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032950
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127381
ClinVar RCV Id:
RCV000115186
RCV000574275
RCV000628153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1363Ala
CA286828
NM_001351834.2:c.4087A>G