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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:
PA108351
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193250
ClinVar RCV Id:
RCV000173299
RCV000186152
RCV001810432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003051.1:p.Pro46Ser
CA312966
NM_003060.4:c.136C>T