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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:
CA2643680382
Gene: SDHB
HGNC
NCBI
Linked Data
gnomAD v4:
1-17054025-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17054025C>A , CM000663.2:g.17054025C>A
GRCh38
NC_000001.10:g.17380520C>A , CM000663.1:g.17380520C>A
GRCh37
NC_000001.9:g.17253107C>A
NCBI36
NG_012340.1:g.5146G>T , LRG_316:g.5146G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375499.8:c.-6G>T
MANE Select
ENSP00000364649.3:n.-6G>T
ENST00000375499.7:c.-6G>T
ENSP00000364649.3:n.-6G>T
ENST00000466613.2:n.7G>T
NM_003000.2:c.-6G>T , LRG_316t1:c.-6G>T
NP_002991.2:n.-6G>T
NM_003000.3:c.-6G>T
MANE Select
NP_002991.2:n.-6G>T
Search 100 bp 5'
Search 100 bp 3'