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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:
PA2828828330
Gene: RFX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7648
ClinVar RCV Id:
RCV000693554
RCV004556040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366342.1:p.Arg149Gln
CA118952
NM_001379413.1:c.446G>A