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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:
CA2796494869
Gene: TPH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938945dup , CM000674.2:g.71938945dup
GRCh38
NC_000012.11:g.72332725dup , CM000674.1:g.72332725dup
GRCh37
NC_000012.10:g.70618992dup
NCBI36
NG_008279.1:g.5100dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333850.4:c.-42dup
MANE Select
ENSP00000329093.3:n.-42dup
ENST00000333850.3:c.-42dup
ENSP00000329093.3:n.-42dup
NM_173353.3:c.-42dup
NP_775489.2:n.-42dup
XR_245894.2:n.59dup
XR_001748575.1:n.59dup
NM_173353.4:c.-42dup
MANE Select
NP_775489.2:n.-42dup
Search 100 bp 5'
Search 100 bp 3'