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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:
PA2573317506
Gene: CYP4V2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1384793
ClinVar RCV Id:
RCV001924916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_997235.3:p.Ile260Phe
CA358948108
NM_207352.4:c.778A>T