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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:
PA2825782069
Gene: SARDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3157835
ClinVar RCV Id:
RCV004450156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128179.1:p.Pro287Ala
CA5314635
NM_001134707.2:c.859C>G