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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:
CA2612710803
Gene: TPH1
HGNC
NCBI
Linked Data
gnomAD v4:
11-18019095-G-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.18019095G>T , CM000673.2:g.18019095G>T
GRCh38
NC_000011.9:g.18040642G>T , CM000673.1:g.18040642G>T
GRCh37
NC_000011.8:g.17997218G>T
NCBI36
NG_011947.1:g.26694C>A
NG_011947.2:g.26694C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000682019.1:c.*1896C>A
MANE Select
ENSP00000508368.1:n.*1896C>A
ENST00000250018.6:c.*1896C>A
ENSP00000250018.2:n.*1896C>A
NM_004179.3:c.*1896C>A
MANE Select
NP_004170.1:n.*1896C>A
Search 100 bp 5'
Search 100 bp 3'