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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:
PA2825215297
Gene: SLC2A9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
350215
ClinVar RCV Id:
RCV000262922
RCV001517997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001001290.1:p.Val253Ile
CA2857057
NM_001001290.2:c.757G>A