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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:
PA2827044766
Gene: FTCD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1355344
ClinVar RCV Id:
RCV001888018
RCV002545819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307341.1:p.Ala455Thr
CA10073469
NM_001320412.2:c.1363G>A