ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580225696
Gene: AMBRA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004083453
ClinVar Variation:
2219448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354399.1:p.Gln90Arg
CA5964564
NM_001367470.1:c.269A>G