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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:
CA2619867993
Gene: TPH2
HGNC
NCBI
Linked Data
gnomAD v4:
12-71994427-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71994433del , CM000674.2:g.71994433del
GRCh38
NC_000012.11:g.72388213del , CM000674.1:g.72388213del
GRCh37
NC_000012.10:g.70674480del
NCBI36
NG_008279.1:g.60588del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333850.4:c.942-6del
MANE Select
ENSP00000329093.3:n.942-6del
ENST00000333850.3:c.942-6del
ENSP00000329093.3:n.942-6del
NM_173353.3:c.942-6del
NP_775489.2:n.942-6del
XM_011537899.1:c.348-6del
XP_011536201.1:n.348-6del
NM_173353.4:c.942-6del
MANE Select
NP_775489.2:n.942-6del
Search 100 bp 5'
Search 100 bp 3'