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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:
PA2828230917
Gene: TRNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
157614
ClinVar RCV Id:
RCV000144947
RCV000734561
RCV004551271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354251.1:p.Ile223Thr
CA249570
NM_001367322.1:c.668T>C