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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:
PA2573075814
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236058
ClinVar RCV Id:
RCV000225064
RCV000264805
RCV000479439
RCV000826186
RCV000622759
RCV002287396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Thr2180Met
CA6327783
NM_001378761.1:c.6539C>T