ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500692
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000226596
RCV000572488
RCV000589621
RCV003469123
RCV003491991
ClinVar Variation:
236685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr741Cys
CA10582802
NM_000051.4:c.2222A>G