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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:
CA2183440098
Gene: KBTBD13
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.65077509G= , CM000677.2:g.65077509G=
GRCh38
NC_000015.9:g.65369847G= , CM000677.1:g.65369847G=
GRCh37
NC_000015.8:g.63156900G=
NCBI36
NG_021411.1:g.5694G= , LRG_682:g.5694G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000432196.5:c.694G=
MANE Select
ENSP00000388723.2:p.Asp232=
ENST00000432196.3:c.694G=
ENSP00000388723.2:p.Asp232=
NM_001101362.2:c.694G= , LRG_682t1:c.694G=
NP_001094832.1:p.Asp232=
NM_001101362.3:c.694G=
MANE Select
NP_001094832.1:p.Asp232=
Search 100 bp 5'
Search 100 bp 3'