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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:
CA2045533089
Gene: TPH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71994518_71994519delinsCT , CM000674.2:g.71994518_71994519delinsCT
GRCh38
NC_000012.11:g.72388298_72388299delinsCT , CM000674.1:g.72388298_72388299delinsCT
GRCh37
NC_000012.10:g.70674565_70674566delinsCT
NCBI36
NG_008279.1:g.60673_60674delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000333850.4:c.1021_1022delinsCT
MANE Select
ENSP00000329093.3:p.Leu341=
ENST00000333850.3:c.1021_1022delinsCT
ENSP00000329093.3:p.Leu341=
NM_173353.3:c.1021_1022delinsCT
NP_775489.2:p.Leu341=
XM_011537899.1:c.427_428delinsCT
XP_011536201.1:p.Leu143=
NM_173353.4:c.1021_1022delinsCT
MANE Select
NP_775489.2:p.Leu341=
Search 100 bp 5'
Search 100 bp 3'