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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:
PA645421558
Gene: RERE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379827
ClinVar RCV Id:
RCV000441094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036234.3:p.His1429Arg
CA16603765
NM_012102.4:c.4286A>G