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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:
PA2826670519
Gene: TRMU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217019
ClinVar RCV Id:
RCV000196798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269714.1:p.Leu253Pro
CA210005
NM_001282785.2:c.758T>C