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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:
CA2796494864
Gene: TPH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938882dup , CM000674.2:g.71938882dup
GRCh38
NC_000012.11:g.72332662dup , CM000674.1:g.72332662dup
GRCh37
NC_000012.10:g.70618929dup
NCBI36
NG_008279.1:g.5037dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000333850.4:c.-105dup
MANE Select
ENSP00000329093.3:n.-105dup
ENST00000333850.3:c.-105dup
ENSP00000329093.3:n.-105dup
NM_173353.3:c.-105dup
NP_775489.2:n.-105dup
NM_173353.4:c.-105dup
MANE Select
NP_775489.2:n.-105dup
Search 100 bp 5'
Search 100 bp 3'