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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:
PA2828393503
Gene: RFXANK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6600
ClinVar RCV Id:
RCV000788451
RCV000985115
RCV004556035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357166.1:p.Asp120Val
CA118365
NM_001370237.1:c.359A>T