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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:
PA108197
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38794
ClinVar RCV Id:
RCV000022386
RCV000426334
RCV000826038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003051.1:p.Arg488His
CA090920
NM_003060.4:c.1463G>A