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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:
PA645502880
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379230
ClinVar RCV Id:
RCV000434160
RCV000694962
RCV002469147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003051.1:p.Met177Val
CA3403918
NM_003060.4:c.529A>G