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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826873282
Gene: APOE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17857
ClinVar RCV Id:
RCV000019440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001289618.1:p.Lys164Glu
CA127506
NM_001302689.2:c.490A>G