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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:
CA2531826773
Gene: TPH1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.18018951dup , CM000673.2:g.18018951dup
GRCh38
NC_000011.9:g.18040498dup , CM000673.1:g.18040498dup
GRCh37
NC_000011.8:g.17997074dup
NCBI36
NG_011947.1:g.26844dup
NG_011947.2:g.26844dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000682019.1:c.*2046dup
MANE Select
ENSP00000508368.1:n.*2046dup
ENST00000250018.6:c.*2046dup
ENSP00000250018.2:n.*2046dup
NM_004179.3:c.*2046dup
MANE Select
NP_004170.1:n.*2046dup
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