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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
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Canonical Allele Identifier:
CA2682013228
Gene: STEAP1B
HGNC
NCBI
IL6
HGNC
NCBI
IL6-AS1
HGNC
NCBI
Linked Data
gnomAD v4:
7-22727053-T-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22727053T>C , CM000669.2:g.22727053T>C
GRCh38
NC_000007.13:g.22766672T>C , CM000669.1:g.22766672T>C
GRCh37
NC_000007.12:g.22733197T>C
NCBI36
NG_011640.1:g.4907T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+515A>G
(STEAP1B)
ENST00000404625.5:c.-84-126T>C
(IL6)
ENSP00000385675.1:n.-84-126T>C
NR_131935.1:n.54-348A>G
(IL6-AS1)
XM_011515390.1:c.-84-126T>C
(IL6)
XP_011513692.1:n.-84-126T>C
XM_011515390.2:c.-84-126T>C
(IL6)
XP_011513692.1:n.-84-126T>C
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