ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503682
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000220825
RCV000554683
RCV000587154
RCV003469006
RCV003483577
ClinVar Variation:
230532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys2159Gly
CA6265955
NM_000051.4:c.6475T>G