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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:
PA2580524535
Gene: SPRED1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2084477
ClinVar RCV Id:
RCV002994728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689807.1:p.Gly434Cys
CA391934801
NM_152594.3:c.1300G>T