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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:
PA645439438
Gene: SDHB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
412475
ClinVar RCV Id:
RCV000466110
RCV000570083
RCV001097530
RCV001099287
RCV003153648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002991.2:p.Ser239Phe
CA089716
NM_003000.3:c.716C>T