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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:
PA2499305843
Gene: CYP4V2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1008107
ClinVar RCV Id:
RCV001305389
RCV001824172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997235.3:p.Arg452His
CA3162840
NM_207352.4:c.1355G>A