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ClinGen Allele Registry
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Canonical Allele Identifier:
CA13649920
Community Standard Title: NM_173353.4(TPH2):c.255+342G>A
Gene: TPH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71942075G>A , CM000674.2:g.71942075G>A
GRCh38
NC_000012.11:g.72335855G>A , CM000674.1:g.72335855G>A
GRCh37
NC_000012.10:g.70622122G>A
NCBI36
NG_008279.1:g.8230G>A
Transcript Alleles
HGVS
Amino-acid Change
NM_173353.4:c.255+342G>A
MANE Select
NP_775489.2:n.255+342G>A
ENST00000333850.4:c.255+342G>A
MANE Select
ENSP00000329093.3:n.255+342G>A
NM_173353.3:c.255+342G>A
NP_775489.2:n.255+342G>A
ENST00000333850.3:c.255+342G>A
ENSP00000329093.3:n.255+342G>A
ENST00000546576.1:n.265+342G>A
XR_001748575.1:n.355+342G>A
XR_245894.2:n.355+342G>A
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