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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:
PA2828438478
Gene: RFWD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3016756
ClinVar RCV Id:
RCV003878891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357466.1:p.Leu125Ile
CA283745948
NM_001370537.1:c.373C>A