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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:
PA891866081
Gene: FTCD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340410
ClinVar RCV Id:
RCV000269021
RCV000287869
RCV000328840
RCV003957754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307341.1:p.Thr564Lys
CA10073216
NM_001320412.2:c.1691C>A