ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032794
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
854135
ClinVar RCV Id:
RCV001059108
RCV002348431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys1251Phe
CA382524209
NM_000051.4:c.3752G>T