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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:
PA2829412697
Gene: SDHD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1359777
ClinVar RCV Id:
RCV001904546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002993.1:p.Thr135Ile
CA382619243
NM_003002.4:c.404C>T