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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:
PA645511255
Gene: SLC5A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438656
ClinVar RCV Id:
RCV000505656
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003032.1:p.Gly484Asp
CA395755458
NM_003041.4:c.1451G>A