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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:
CA2619868001
Gene: TPH2
HGNC
NCBI
Linked Data
gnomAD v4:
12-71994433-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71994434del , CM000674.2:g.71994434del
GRCh38
NC_000012.11:g.72388214del , CM000674.1:g.72388214del
GRCh37
NC_000012.10:g.70674481del
NCBI36
NG_008279.1:g.60589del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000333850.4:c.942-5del
MANE Select
ENSP00000329093.3:n.942-5del
ENST00000333850.3:c.942-5del
ENSP00000329093.3:n.942-5del
NM_173353.3:c.942-5del
NP_775489.2:n.942-5del
XM_011537899.1:c.348-5del
XP_011536201.1:n.348-5del
NM_173353.4:c.942-5del
MANE Select
NP_775489.2:n.942-5del
Search 100 bp 5'
Search 100 bp 3'