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ClinGen Allele Registry
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Canonical Allele Identifier:
CA116042
Community Standard Title: NM_173353.4(TPH2):c.907C>T (p.Arg303Trp)
Gene: TPH2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71979053C>T , CM000674.2:g.71979053C>T
GRCh38
NC_000012.11:g.72372833C>T , CM000674.1:g.72372833C>T
GRCh37
NC_000012.10:g.70659100C>T
NCBI36
NG_008279.1:g.45208C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_173353.4:c.907C>T
MANE Select
NP_775489.2:p.Arg303Trp
ENST00000333850.4:c.907C>T
MANE Select
ENSP00000329093.3:p.Arg303Trp
NM_173353.3:c.907C>T
NP_775489.2:p.Arg303Trp
ENST00000333850.3:c.907C>T
ENSP00000329093.3:p.Arg303Trp
XM_011537899.1:c.313C>T
XP_011536201.1:p.Arg105Trp
Search 100 bp 5'
Search 100 bp 3'