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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:
CA2649007413
Gene: TBX19
HGNC
NCBI
Linked Data
gnomAD v4:
1-168293010-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.168293012dup , CM000663.2:g.168293012dup
GRCh38
NC_000001.10:g.168262250dup , CM000663.1:g.168262250dup
GRCh37
NC_000001.9:g.166528874dup
NCBI36
NG_008244.1:g.16973dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367821.8:c.469-132dup
MANE Select
ENSP00000356795.3:n.469-132dup
ENST00000367821.7:c.469-132dup
ENSP00000356795.3:n.469-132dup
ENST00000431969.5:c.266-132dup
NM_005149.2:c.469-132dup
NP_005140.1:n.469-132dup
NM_005149.3:c.469-132dup
MANE Select
NP_005140.1:n.469-132dup
Search 100 bp 5'
Search 100 bp 3'