ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500472
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232928
ClinVar RCV Id:
RCV000213749
RCV000456562
RCV000482413
RCV001193666
RCV001798721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Phe627Cys
CA6264891
NM_000051.4:c.1880T>G