ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498784
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000214811
RCV000567197
RCV000818514
RCV002503873
ClinVar Variation:
234262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr267Ala
CA10577424
NM_000051.4:c.799A>G