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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:
PA1139695674
Gene: SLC22A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972151
ClinVar RCV Id:
RCV001248116
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001295051.1:p.Leu387His
CA360807497
NM_001308122.2:c.1160T>A