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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:
CA2649007323
Gene: TBX19
HGNC
NCBI
Linked Data
gnomAD v4:
1-168291137-TAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.168291138_168291139del , CM000663.2:g.168291138_168291139del
GRCh38
NC_000001.10:g.168260376_168260377del , CM000663.1:g.168260376_168260377del
GRCh37
NC_000001.9:g.166527000_166527001del
NCBI36
NG_008244.1:g.15099_15100del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367821.8:c.204-22_204-21del
MANE Select
ENSP00000356795.3:n.204-22_204-21del
ENST00000367821.7:c.204-22_204-21del
ENSP00000356795.3:n.204-22_204-21del
NM_005149.2:c.204-22_204-21del
NP_005140.1:n.204-22_204-21del
NM_005149.3:c.204-22_204-21del
MANE Select
NP_005140.1:n.204-22_204-21del
Search 100 bp 5'
Search 100 bp 3'