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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:
CA2563044803
Gene: TPH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71941983del , CM000674.2:g.71941983del
GRCh38
NC_000012.11:g.72335763del , CM000674.1:g.72335763del
GRCh37
NC_000012.10:g.70622030del
NCBI36
NG_008279.1:g.8138del
Transcript Alleles
HGVS
Amino-acid change
ENST00000333850.4:c.255+250del
MANE Select
ENSP00000329093.3:n.255+250del
ENST00000333850.3:c.255+250del
ENSP00000329093.3:n.255+250del
ENST00000546576.1:n.265+250del
NM_173353.3:c.255+250del
NP_775489.2:n.255+250del
XR_245894.2:n.355+250del
XR_001748575.1:n.355+250del
NM_173353.4:c.255+250del
MANE Select
NP_775489.2:n.255+250del
Search 100 bp 5'
Search 100 bp 3'