ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503668
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232449
ClinVar RCV Id:
RCV000219988
RCV000627902
RCV001818534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser2123Gly
CA10579220
NM_000051.4:c.6367A>G