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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:
PA096014
Gene: RFT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207986
ClinVar RCV Id:
RCV000190246
RCV001818462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443091.1:p.Lys152Glu
CA275919
NM_052859.4:c.454A>G